Cowden Syndrome 1; Cws1

Description

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS ) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008).Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015).Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden SyndromeAlso see Cowden syndrome-2 (CWS2 ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; CWS3 (OMIM ), caused by mutation in the SDHD gene (OMIM ) on chromosome 11q23; CWS4 (OMIM ), caused by hypermethylation of the promoter of the KLLN gene (OMIM ), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (OMIM ), caused by mutation in the PIK3CA gene (OMIM ) on chromosome 3q26; CWS6 (OMIM ), caused by mutation in the AKT1 gene (OMIM ) on chromosome 14q32; and CWS7 (OMIM ), caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11.

Genes related to Cowden Syndrome 1; Cws1

SDHC
SDHB
AKT1
KLLN
SDHD
PTEN
SEC23B
PIK3CA

Clinical Features

Top most frequent phenotypes and symptoms related to Cowden Syndrome 1; Cws1

Intellectual disability
Seizures
Global developmental delay
Short stature
Pica
Hearing impairment
Scoliosis
Ataxia
Micrognathia
Failure to thrive

And another 111 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Cowden Syndrome 1; Cws1 have a estimated prevalence of 0.5 per 100k worldwide.

Accelerate your rare disease diagnosis with us

Learn more

Cowden Syndrome 1; Cws1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 1 % Genes 25 %
Hereditary Endocrine Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. CDC73, PRKAR1A, MAX, SDHD, TSHR, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 27 % Genes 50 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...) View the complete list with 41 more genes Panel GTR000553691 complete gene list RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, CBL, PTPN11, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 50 %
Comprehensive Mitochondrial Metabolic Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10 , (...) View the complete list with 176 more genes Panel GTR000552176 complete gene list MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, COX7A1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, MT-TT, MT-ATP8, MT-ND3, MT-CO3, MT-RNR2, MT-CO1, MT-ND5, MT-CO2, MT-ND2, MT-CYB, TFAM, MT-RNR1, NARS2, LARS2, MT-TS2, MT-TS1, MT-ND4, MT-ND6, MT-ND1, MT-ATP6, MT-TK, MT-TL1, SDHD, CPT1B, PDHX, MTFMT, FARS2, TACO1, PMM2, SLC25A20, SLC22A5, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, NAGS, SLC25A15, IVD, DLAT, SUCLG1, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, PGAM2, PHKB, LPIN1, TCN2, LMBRD1, MMADHC, PHKA1, TAZ, TIMM8A, PDHA1, OTC, PUS1, ETHE1, MPI, TYMP, SCO2, PCCA, PCCB, COQ2, NDUFA13, PDP1, HADHB, GFM1, TK2, POLG2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, GYS1, MRPS22, COQ8A, SUCLA2, SDHB, COX4I2, PGM1, PHKG2, KARS, G6PC, PYGL, NUBPL, NDUFA10, TTC19, NDUFAF1, PHKA2, SARS2, TMEM70, PDHB, DGUOK, PDSS1, PDSS2, COQ9, OPA3, HADHA, SDHC, SLC25A13, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, POLG, DLD, TRMU, OPA1, CPT2, CPS1, MTRR, SLC37A4, SDHAF2, MMACHC, GAA, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ATP5F1E, HLCS, UQCRB, ARG1, UQCRQ, GYS2, PC, YARS2, ACAT1, ACADVL, AGL, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1 Specificity 2 % Genes 38 %
VistaSeq Renal Cell Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. MITF, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 22 % Genes 50 %
VistaSeq Endrocrine Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL Specificity 31 % Genes 50 %
Hereditary Gastric Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. PDGFRA, KIT, CTNNA1, SMAD4, BMPR1A, STK11, CDH1, SDHB, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 16 % Genes 38 %
Comprehensive Hereditary Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...) View the complete list with 34 more genes Panel GTR000551352 complete gene list DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, CBL, PTPN11, BLM, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, SDHC, RET, SDHAF2, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 8 % Genes 50 %
Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. BAP1, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, MSH2, VHL Specificity 27 % Genes 50 %
Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SDHC Specificity 100 % Genes 13 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication). By ARUP Laboratories, Molecular Genetics and Genomics in United States. PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG , (...) View the complete list with 132 more genes Panel GTR000500880 complete gene list PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10, MT-TT, MT-ATP8, MT-ND3, MT-CO3, MT-RNR2, MT-CO1, MT-CO2, MT-ND2, MT-CYB, LARS2, MT-TS2, MT-TS1, MT-ATP6, MT-TK, MT-TL1, SDHD, PDHX, APTX, SLC25A20, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, ETFDH, ETFA, ETFB, SLC25A15, OXCT1, DLAT, SUCLG1, DBT, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, SUOX, ABCB7, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, PINK1, HMGCS2, SPG7, COQ2, PDP1, HADHB, GFM1, SLC25A22, TK2, POLG2, DNAJC19, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, MRPS22, CYCS, COQ8A, SUCLA2, SDHB, COX4I2, GFER, HMGCL, NDUFAF1, PCK2, TMEM70, PDHB, DGUOK, DNM1L, PDSS1, PDSS2, COQ9, FH, HADHA, SDHC, MFN2, SLC25A13, NDUFAF2, RRM2B, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, CPT2, TWNK, BCS1L, BCKDHB, BCKDHA, ATPAF2, UQCRB, UQCRQ, PC, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, MCCC2 Specificity 2 % Genes 38 %
Renal Cancer Panel. By GeneDx in United States. BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 23 % Genes 50 %
Hereditary Cancer Panel - Renal19. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 22 % Genes 50 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 24 % Genes 50 %
CustomNext: Cancer. By Ambry Genetics in United States. NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...) View the complete list with 48 more genes Panel GTR000560526 complete gene list NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 6 % Genes 50 %
RenalNext. By Ambry Genetics in United States. BAP1, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 23 % Genes 50 %
SDHD, SDHB, SDHC. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
Hereditary Paraganglioma/Pheochromocytoma - SDHB, SDHC, SDHD Deletion/Duplication Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
Hereditary Paraganglioma/Pheochromocytoma PGL3 - SDHC Known Point Mutation Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHC Specificity 100 % Genes 13 %
Hereditary Pheochromocytoma/Paraganglioma Panel - SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127 Sequence and Del/Dup Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. MAX, SDHD, TMEM127, SDHB, SDHC, SDHAF2 Specificity 50 % Genes 38 %
Hereditary Paraganglioma/Pheochromocytoma Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 25 % Genes 38 %
Hereditary Endocrine Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CDKN1B, CDC73, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 27 % Genes 50 %
Hereditary Kidney Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, PTEN, MLH1, MSH6, MSH2, VHL Specificity 20 % Genes 50 %
Paragangliomas 3 (sequence analysis of SDHC gene). By CGC Genetics in Portugal. SDHC Specificity 100 % Genes 13 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes). By CGC Genetics in Portugal. GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 19 % Genes 38 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHC Gene. By PreventionGenetics PreventionGenetics in United States. SDHC Specificity 100 % Genes 13 %
Endocrine tumours. By Institute of Human Genetics Cologne University in Germany. CDKN1B, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 28 % Genes 38 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 50 %
Hereditary Renal Cancer panel. By Molecular Diagnostics Laboratory University Health Network in Canada. MET, FLCN, SDHD, SDHA, SDHB, FH, SDHC Specificity 43 % Genes 38 %
Gastrointestinal Stromal Tumor – Basic Diagnostics. By MGZ Medical Genetics Center in Germany. KIT, NF1, PRKAR1A, SDHD, SDHB, SDHC Specificity 50 % Genes 38 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 38 %
Epilepsy and Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...) View the complete list with 166 more genes Panel GTR000521058 complete gene list PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, C19orf12, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SLC33A1, SGCE, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, TRIT1, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 2 % Genes 38 %
Mitochondrial Diseases. By MGZ Medical Genetics Center in Germany. PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2 , (...) View the complete list with 148 more genes Panel GTR000521060 complete gene list PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2, FDX2, DNA2, FBXL4, LAMP2, LARS2, SLC19A2, PNPT1, CLPP, GFAP, SLC19A3, CHKB, ANO10, SLC33A1, KIF5A, GDAP1, SDHD, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, SLC25A38, APTX, SLC25A20, SLC22A5, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, GBE1, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ABHD5, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, SPG7, COQ2, PDP1, GFM1, TK2, POLG2, DNAJC19, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, SDHB, COX4I2, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, OPA3, PANK2, SDHC, MFN2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, CPT2, SDHAF2, C12orf65, TWNK, BCS1L, AUH, ATPAF2, ATP5F1E, UQCRB, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2 Specificity 2 % Genes 38 %
Complex II Defect. By MGZ Medical Genetics Center in Germany. SDHD, SDHA, SDHAF1, ISCU, SDHB, SDHC, SDHAF2 Specificity 43 % Genes 38 %
Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4 , (...) View the complete list with 111 more genes Panel GTR000521091 complete gene list PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4, SLC19A2, PNPT1, GFAP, SLC19A3, SLC33A1, SDHD, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, SLC25A20, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AIFM1, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, SPG7, COQ2, PDP1, GFM1, TK2, DNAJC19, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, SDHB, COX4I2, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, SDHAF2, TWNK, BCS1L, AUH, ATPAF2, ATP5F1E, UQCRB, UQCRQ, PC, YARS2, ACAD9, AARS2 Specificity 3 % Genes 38 %
Gastrointestinal Stromal Tumor. By MGZ Medical Genetics Center in Germany. KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2 Specificity 28 % Genes 38 %
Breast Cancer. By MGZ Medical Genetics Center in Germany. CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1 , (...) View the complete list with 17 more genes Panel GTR000521110 complete gene list CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1, PALB2, NBN, ATM, BLM, FANCC, SDHB, FH, SDHC, TP53, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 11 % Genes 50 %
Epilepsy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...) View the complete list with 192 more genes Panel GTR000521111 complete gene list PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, FTL, TUBB4A, C19orf12, MYBPC1, GMPPB, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, CHD8, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, DPM2, CACNB4, SYNE1, FA2H, SLC33A1, CASR, SGCE, CACNA1A, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, AMACR, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 2 % Genes 38 %
Thyroid Cancer. By MGZ Medical Genetics Center in Germany. DICER1, CHEK2, FLCN, SDHD, STK11, ATM, MEN1, SDHB, SDHC, RET, PTEN, MUTYH, APC Specificity 31 % Genes 50 %
Comprehensive mitochondrial disorders panel. By Centogene AG - the Rare Disease Company in Germany. HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...) View the complete list with 160 more genes Panel GTR000527972 complete gene list HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX, FECH, SLC25A20, CYP27A1, COX6B1, FXN, GCDH, ETFDH, ETFA, ETFB, HK1, SLC25A15, ALDH4A1, IVD, OXCT1, DLAT, SUCLG1, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, CPT1A, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, OAT, AGXT, CYP27B1, AK2, SARDH, ALDH5A1, SUOX, SLC9A6, ACSL4, MAOA, ABCB7, TIMM8A, GK, PDHA1, OTC, RNASEL, SCO2, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, SPG7, COQ2, UNG, PDP1, HADHB, GFM1, SLC25A22, TK2, ACADSB, POLG2, ALDH2, HTRA2, MRPS16, TSFM, TUFM, HAX1, SLC25A3, ACAD8, MRPS22, CYCS, SUCLA2, SDHB, SOD2, COX4I2, GATM, SLC25A12, ABAT, CAVIN1, IDH2, SCP2, CYP11A1, CYP24A1, NDUFA10, HSD3B2, HMGCL, NDUFAF1, PCK2, SARS2, ALDH6A1, PDHB, DIABLO, DGUOK, ALDH18A1, AGK, NDUFA9, NDUFB3, LIAS, DHODH, IDH3B, ACO2, MRPL3, CYP11B2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, CYP11B1, AFG3L2, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRODH, TRMU, ABCB6, OPA1, CPT2, CPS1, AMACR, MTRR, STAR, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, HLCS, UQCRB, PC, ACAT1, ACADVL, ACADS, ACADM, ACAD9, MCCC2, MCCC1 Specificity 2 % Genes 38 %
Pheochromocytoma and Paraganglioma Panel. By CeGaT GmbH in Germany. CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 24 % Genes 38 %
Renal cell carcinoma Panel. By CeGaT GmbH in Germany. BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 4 more genes Panel GTR000522384 complete gene list BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 17 % Genes 50 %
Nuclear encoded Mitochondriopathies Panel. By CeGaT GmbH in Germany. CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1 , (...) View the complete list with 263 more genes Panel GTR000522476 complete gene list CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1, MT-TL2, SCO1, COX10, MARS2, COASY, MT-ATP8, MT-ND3, MT-CO3, MT-RNR2, MT-CO1, MT-ND5, MT-CO2, MT-ND2, MT-CYB, FDX2, DDHD1, ERCC6, DNA2, PDK3, MT-RNR1, LARS2, MT-TS2, MT-TS1, SLC19A2, PNPT1, CLPP, SAMHD1, SLC19A3, SPART, SLC33A1, KIF5A, SPAST, MT-ND4, MT-ND6, MT-ND1, MT-ATP6, MT-TL1, ATL1, GDAP1, SACS, SDHD, RMRP, MGME1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, PPOX, OGDH, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, HK1, L2HGDH, NAGS, SLC25A15, ALDH4A1, IVD, OXCT1, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, OAT, AK2, MMADHC, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, PUS1, D2HGDH, ETHE1, TYMP, SCO2, CISD2, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, SPG7, COQ2, UNG, PDP1, HADHB, GFM1, SLC25A22, TK2, ACADSB, POLG2, DNAJC19, REEP1, HTRA2, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, ACAD8, RARS2, MRPS22, CYCS, COQ8A, SUCLA2, SDHB, COX4I2, GATM, GAMT, SLC25A12, TMEM126A, GFER, KARS, IDH2, NUBPL, NDUFA10, XPNPEP3, MTPAP, TTC19, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ALDH6A1, PDHB, DIABLO, BOLA3, DGUOK, DNM1L, AGK, COX14, NDUFA9, NDUFB3, LIAS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, HSD17B10, WFS1, TRMU, OPA1, CPT2, CPS1, AMACR, SDHAF2, ELAC2, STAR, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, BTD, ATP5F1E, HLCS, UQCRB, CEP89, CRAT, BCAT2, SFXN4, RMND1, LYRM4, MRPL44, COX7B, UQCRQ, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACAD9, AARS2, MCCC2, MCCC1 Specificity 2 % Genes 38 %
SDHC. By Innovagenomics Innovagenomics S.L in Spain. SDHC Specificity 100 % Genes 13 %
Inherited Cancer Screen. By Counsyl in United States. POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA , (...) View the complete list with 16 more genes Panel GTR000552078 complete gene list POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA, MEN1, SDHB, SDHC, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 9 % Genes 38 %
qCancer Risk Expanded. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...) View the complete list with 25 more genes Panel GTR000552850 complete gene list POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TSC1, TSC2, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 9 % Genes 50 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI). By Invitae in United States. DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11 , (...) View the complete list with 22 more genes Panel GTR000528518 complete gene list DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TSC1, TSC2, SDHA, MEN1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 10 % Genes 50 %
Invitae Gastric Cancer Panel. By Invitae in United States. PDGFRA, KIT, NF1, SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHA, SDHB, SDHC, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 17 % Genes 38 %
Invitae Multi-Cancer Panel. By Invitae in United States. DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...) View the complete list with 60 more genes Panel GTR000528909 complete gene list DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 50 %
Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel. By Invitae in United States. PDGFRA, KIT, NF1, SDHD, SDHA, SDHB, SDHC Specificity 43 % Genes 38 %
ONCOLOGY, PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...) View the complete list with 60 more genes Panel GTR000531499 complete gene list POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, KIT, PRSS1, SMARCB1, SMARCA4, TERT, DKC1, FANCB, ERCC3, ERCC2, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, ATM, NSD1, TSC1, TSC2, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 50 %
Mitochondrial respiratory chain complex II, III, and IV deficiency. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCO1, COX10, COX4I1, SDHD, SDHA, TACO1, COX6B1, FASTKD2, SDHAF1, SURF1, COX15, SCO2, CYCS, SDHB, COX4I2, TTC19, SDHC, SDHAF2, BCS1L, UQCRB , (...) View the complete list with 1 more genes Panel GTR000531657 complete gene list SCO1, COX10, COX4I1, SDHD, SDHA, TACO1, COX6B1, FASTKD2, SDHAF1, SURF1, COX15, SCO2, CYCS, SDHB, COX4I2, TTC19, SDHC, SDHAF2, BCS1L, UQCRB, UQCRQ Specificity 15 % Genes 38 %
Hereditary Cancer Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...) View the complete list with 40 more genes Panel GTR000512650 complete gene list BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 50 %
Endocrine Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MXD1, AIP, CDKN1B, CDC73, PRKAR1A, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 27 % Genes 50 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...) View the complete list with 35 more genes Panel GTR000560746 complete gene list BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 8 % Genes 50 %
Paraganglioma-Pheochromocytomas NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EGLN1, NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 25 % Genes 38 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 50 %
Sarcoma Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...) View the complete list with 6 more genes Panel GTR000531719 complete gene list DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 12 % Genes 38 %
Paraganglioma-Pheochromocytoma Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 28 % Genes 38 %
Renal / Urinary Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...) View the complete list with 7 more genes Panel GTR000531721 complete gene list DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 15 % Genes 50 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...) View the complete list with 14 more genes Panel GTR000552183 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB, SDHC, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 12 % Genes 50 %
Comprehensive Hereditary Cancer Panel. By Blueprint Genetics in Finland. REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...) View the complete list with 126 more genes Panel GTR000552807 complete gene list REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L, POT1, AIP, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, GREM1, POLD1, SRP72, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KITLG, KIT, SMARCB1, SMARCA4, TERT, TERC, MITF, EZH2, RRAS, RASA2, NSUN2, SPRED1, DKC1, FANCB, LZTR1, ERCC3, ERCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, POLH, XPC, SOS2, TINF2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 50 %
Hereditary Gastrointestinal Cancer Panel. By Blueprint Genetics in Finland. NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1 , (...) View the complete list with 19 more genes Panel GTR000552736 complete gene list NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 11 % Genes 50 %
Hereditary Endocrine Cancer Panel. By Blueprint Genetics in Finland. DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN , (...) View the complete list with 2 more genes Panel GTR000552750 complete gene list DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN, APC, VHL Specificity 19 % Genes 50 %
FoundationOne® Heme. By Foundation Medicine, Inc. in United States. TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...) View the complete list with 385 more genes Panel GTR000527977 complete gene list TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2, ID3, KDM2B, JAK1, JUN, KDM4C, KLHL6, IKBKE, INPP4B, IKZF3, HSP90AA1, JARID2, LRP1B, LEF1, APH1A, BCL2L2, AURKB, ARFRP1, ARHGAP26, MDM4, MAP2K4, MAGED1, BTLA, MCL1, EMSY, BCL7A, MKI67, BTG2, CHEK1, NUP98, PCLO, PCBP1, PASK, PDCD1, PBRM1, DAXX, PDCD11, PDCD1LG2, EPHB1, EPHA3, EBF1, DOT1L, EPHA5, ECT2L, EPHA7, FGF6, FBXO11, FAF1, ERG, FHIT, TENT5C, ETS1, FRS2, FOXO3, GADD45B, CD274, MYO18A, CCT6B, CDK8, CCND3, CD22, NOD1, CD58, GSK3B, IRF1, IRF4, IRS2, PIK3CG, CRKL, MAPK1, MAP3K14, AXIN1, CRLF2, INHBA, XBP1, BCL10, IRF8, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, RICTOR, KDM5A, EED, ERBB4, PPP2R1A, MAP3K7, ELP2, CIC, AXL, CD70, CAD, NUP93, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, CDKN2B, PTPRO, TCF3, RARA, CBFB, ERBB2, MSH3, MAFB, DDR2, MDM2, IGF1R, MALT1, CDK12, HDAC4, BCL2, CCND1, MIB1, KAT6A, DDX3X, CD79B, CD79A, B2M, PLCG2, NCSTN, TNFAIP3, KDR, FLT1, WISP3, NSD2, RAD51, PDGFRB, CTCF, FBXO31, CDK6, SRC, ICK, MAP3K1, CCND2, NTRK2, CARD11, POT1, TRAF3, NOTCH2, TYK2, PRKDC, PIK3R1, CIITA, NFKBIA, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, IL7R, BCORL1, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, CD36, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, TGFBR2, NOTCH1, ATR, MTOR, ZMYM3, TAF1, GATA1, CTNNB1, FOXP1, MED12, S1PR2, GATA3, FGF3, SOX10, HGF, ACTB, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, RELN, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, LRRK2, NF1, NTRK1, DNM2, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, TMSB4X, GID4, SERP2, ZNF703, FLYWCH1, PAG1, MEF2B, GNA12, EXOSC6, DUSP9, AURKA, TOP1, P2RY8, MAP3K6, FGF4, SMARCA1, SUZ12, DUSP2, NCOR2, DTX1, ASMTL, BRSK1, FGF19, RHOA, BCL11B, FOXO1, ADGRA2, PTPN6, PTPN2, RASGEF1A, PRSS8, SGK1, STAT6, SOCS3, TCL1A, SOCS2, SPEN, SOCS1, STAT5A, SPOP, STAT4, YY1AP1, ZNF24, WDR90, TLL2, XPO1, ZNF217, TMEM30A, TRAF2, TNFRSF17, TNFRSF14, U2AF2, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MEF2C, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, BCOR, AMER1, TUSC3, SDHB, IDH2, RAF1, SDHC, CPS1, TNFRSF11A, RET, RB1, WT1, HNF1A, FOXL2, PC, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 75 %
Hereditary Cancer Comprehensive Panel. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...) View the complete list with 53 more genes Panel GTR000551448 complete gene list TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA, BAP1, XRCC2, PRSS1, MYH8, MYH3, MYH6, TERT, TERC, CTNNA1, MYH11, ATR, MYH9, MYH14, MYH2, MYH7, NTRK1, RAD51D, BARD1, RAD51C, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, SDHB, SDHC, RET, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 10 % Genes 88 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...) View the complete list with 295 more genes Panel GTR000558437 complete gene list IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 75 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 75 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) SDHC Gene. By Reference Laboratory Genetics in Spain. SDHC Specificity 100 % Genes 13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 28 % Genes 38 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes. By Reference Laboratory Genetics in Spain. DICER1, WRN, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHB, FH, SDHC, SDHAF2, RB1, TP53, RECQL4, MLH1 , (...) View the complete list with 5 more genes Panel GTR000559848 complete gene list DICER1, WRN, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHB, FH, SDHC, SDHAF2, RB1, TP53, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 12 % Genes 38 %
Tempus xT assay. By Tempus Labs, Inc. in United States. HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 2 % Genes 100 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 75 %
Hereditary Paraganglioma-Pheochromocytoma Syndromes: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SDHD, SDHA, SDHB, SDHC Specificity 75 % Genes 38 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...) View the complete list with 123 more genes Panel GTR000560391 complete gene list RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC, ANTXR1, RHBDF2, KDR, CYLD, GALNT12, BUB1B, XPA, ERCC5, DICER1, WRN, CD96, RSPO1, ESCO2, KLHDC8B, AIP, LIG4, EXT1, EXT2, AKT1, AXIN2, POLE, PDGFRA, POLD1, PIK3CA, ERCC4, CDKN1B, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, GLMN, SMARCB1, SMARCA4, ERCC6, TERT, LYST, MITF, GLI3, TGFBR1, ANTXR2, ATR, DKC1, FANCB, ERCC3, ERCC2, CYP21A2, NF1, NTRK1, WAS, RTEL1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, TINF2, BLM, FANCC, SDHA, MEN1, TMEM127, RNASEL, NDUFA13, SDHB, FAH, FH, SDHC, KIF1B, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, HFE, BRCA2, BRCA1 Specificity 5 % Genes 75 %
Endocrine Cancer: gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. AIP, CDKN1B, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 27 % Genes 50 %
Hereditary Cancer Syndrome: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...) View the complete list with 40 more genes Panel GTR000560410 complete gene list BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 50 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...) View the complete list with 35 more genes Panel GTR000560411 complete gene list BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 8 % Genes 50 %
Hereditary Renal Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. GPC3, MET, FLCN, SDHD, CDKN1C, SDHA, SDHB, FH, SDHC, SDHAF2, WT1, PTEN, VHL Specificity 31 % Genes 50 %
Hereditary Paraganglioma/Pheochromocytoma Panel. By Baylor Miraca Genetics Laboratories in United States. MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 34 % Genes 38 %
Paragangliomas 3. By Center for Human Genetics, Inc in United States. SDHC Specificity 100 % Genes 13 %
Respiratory Chain Deficiency. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, COX7A1, NDUFS5, SDHD, SDHA, PDHX, TACO1, COX6B1, FASTKD2, LRPPRC, DLAT, NDUFAF5, NDUFS2, NDUFS6 , (...) View the complete list with 35 more genes Panel GTR000552347 complete gene list SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, COX7A1, NDUFS5, SDHD, SDHA, PDHX, TACO1, COX6B1, FASTKD2, LRPPRC, DLAT, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, PDHA1, SCO2, NDUFA13, PDP1, SDHB, COX4I2, NUBPL, NDUFA10, TTC19, NDUFAF1, TMEM70, PDHB, SDHC, NDUFAF2, FOXRED1, NDUFS4, SDHAF2, BCS1L, ATPAF2, ATP5F1E, UQCRB, UQCRQ Specificity 6 % Genes 38 %
Hereditary Paraganglioma. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. SDHC Specificity 100 % Genes 13 %
Hereditary Pheochromocytoma and Paraganglioma Panel. By Genetic Services Laboratory University of Chicago in United States. EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 22 % Genes 38 %
Hereditary Phaeochromocytoma/Paraganglioma Syndromes (MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL). By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand. MAX, SDHD, TMEM127, SDHB, SDHC, SDHAF2, VHL Specificity 43 % Genes 38 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2 , (...) View the complete list with 27 more genes Panel GTR000522559 complete gene list CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, NBN, ATM, ALK, TSC1, TSC2, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 9 % Genes 50 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 25 % Genes 50 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel. By GeneDx in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 25 % Genes 38 %
SDHC Gene Sequencing. By GeneDx in United States. SDHC Specificity 100 % Genes 13 %
CancerNext-Expanded. By Ambry Genetics in United States. HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...) View the complete list with 44 more genes Panel GTR000560508 complete gene list HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL, BRCA2, BRCA1 Specificity 7 % Genes 50 %
PGLNext. By Ambry Genetics in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 25 % Genes 38 %
SDHB, SDHD, SDHC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
SDHC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SDHC Specificity 100 % Genes 13 %
Hereditary Paraganglioma/Pheochromocytoma - SDHB, SDHC, SDHD Sequence and Del/Dup Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
Hereditary Paraganglioma/Pheochromocytoma PGL3 - SDHC Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHC Specificity 100 % Genes 13 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...) View the complete list with 86 more genes Panel GTR000530264 complete gene list DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, POLD1, ERCC4, CDKN1B, BAP1, FANCG, FANCA, KIT, PRSS1, SH2D1A, SMARCB1, SMARCA4, SMARCE1, DOCK8, DKC1, ERCC3, ERCC2, NF1, MPL, SERPINA1, RAD51D, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, CDH1, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, CBL, RMRP, PTPN11, HRAS, GJB2, BLM, GBA, FANCC, SDHA, MEN1, HAX1, SDHB, FAH, FH, SDHC, SLC25A13, RET, SDHAF2, RB1, ABCB11, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, HFE, BRCA2, BRCA1 Specificity 4 % Genes 50 %
Paragangliomas 1,3 and 4 (deletion/duplication analysis of SDHD, SDHC and SDHB genes). By CGC Genetics in Portugal. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
OncoRisk (NGS panel for 48 genes). By CGC Genetics in Portugal. EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...) View the complete list with 28 more genes Panel GTR000525282 complete gene list EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, PALB2, NF2, PHOX2B, NBN, ATM, NSD1, MEN1, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, EPCAM, APC, VHL, BRCA2, MSH2, BRCA1 Specificity 9 % Genes 50 %
OncoRisk Plus (NGS panel for 89 genes). By CGC Genetics in Portugal. CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...) View the complete list with 69 more genes Panel GTR000525735 complete gene list CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 50 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes). By CGC Genetics in Portugal. GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 19 % Genes 38 %
SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By Exeter Molecular Genetics Laboratory in United Kingdom. SDHC Specificity 100 % Genes 13 %
Renal Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DIS3L2, DICER1, BAP1, SMARCB1, MITF, CDC73, CHEK2, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1 , (...) View the complete list with 5 more genes Panel GTR000509326 complete gene list DIS3L2, DICER1, BAP1, SMARCB1, MITF, CDC73, CHEK2, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 16 % Genes 50 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 25 % Genes 38 %
Hypertension. By Institute of Human Genetics Cologne University in Germany. PDE3A, WNK4, CUL3, KLHL3, NR3C2, KCNJ5, SCNN1G, SCNN1A, HSD11B2, WNK1, SDHD, SDHA, CYP17A1, SDHB, SDHC, SDHAF2 Specificity 19 % Genes 38 %
Custom gene seqeuncing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH , (...) View the complete list with 10 more genes Panel GTR000560776 complete gene list LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH, SDHC, MC1R, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL, TTR Specificity 14 % Genes 50 %
SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By MGZ Medical Genetics Center in Germany. SDHC Specificity 100 % Genes 13 %
Leigh Syndrome. By MGZ Medical Genetics Center in Germany. SCO1, COX10, SLC19A3, SDHD, SDHA, MTFMT, TACO1, LRPPRC, SDHAF1, SURF1, COX15, PDHA1, SCO2, SDHB, TTC19, COX14, SDHC, SDHAF2, C12orf65, BCS1L , (...) View the complete list with 3 more genes Panel GTR000514823 complete gene list SCO1, COX10, SLC19A3, SDHD, SDHA, MTFMT, TACO1, LRPPRC, SDHAF1, SURF1, COX15, PDHA1, SCO2, SDHB, TTC19, COX14, SDHC, SDHAF2, C12orf65, BCS1L, ATPAF2, ATP5F1E, ACAD9 Specificity 14 % Genes 38 %
Hereditary Cancer Syndromes - panels. By MGZ Medical Genetics Center in Germany. RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...) View the complete list with 80 more genes Panel GTR000552439 complete gene list RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1, POLD1, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 50 %
Renal Cancer. By MGZ Medical Genetics Center in Germany. BAP1, SMARCB1, CHEK2, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, VHL Specificity 25 % Genes 50 %
Thyroid Cancer – Basic Diagnostics. By MGZ Medical Genetics Center in Germany. SDHD, SDHB, SDHC, RET, PTEN Specificity 80 % Genes 50 %
Pheochromozytoma-Paraganglioma syndrome. By MGZ Medical Genetics Center in Germany. NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 28 % Genes 38 %
Pheochromocytoma type 3. By Centogene AG - the Rare Disease Company in Germany. SDHC Specificity 100 % Genes 13 %
Familial Tumor Syndromes Panel. By CeGaT GmbH in Germany. RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN , (...) View the complete list with 12 more genes Panel GTR000522366 complete gene list RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN, TSC1, TSC2, BLM, SDHB, FH, SDHC, RET, RB1, LIG4, TP53, RECQL4, PTEN Specificity 19 % Genes 75 %
Breast and Ovarian Cancer - extended Diagnostic Panel. By CeGaT GmbH in Germany. UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD , (...) View the complete list with 21 more genes Panel GTR000522395 complete gene list UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, FANCC, MEN1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 10 % Genes 50 %
Paraganglioma, SDHC. By GGA - Galil Genetic Analysis in Israel. SDHC Specificity 100 % Genes 13 %
Cancer Predisposition. By Asper Biogene Asper Biogene LLC in Estonia. DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...) View the complete list with 69 more genes Panel GTR000520069 complete gene list DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 50 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, SDHD). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. SDHD, SDHB, SDHC, VHL Specificity 75 % Genes 38 %
Invitae Sarcoma Panel. By Invitae in United States. DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...) View the complete list with 6 more genes Panel GTR000529017 complete gene list DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 12 % Genes 38 %
Invitae Renal/Urinary Tract Cancers Panel. By Invitae in United States. DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 4 more genes Panel GTR000528914 complete gene list DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 13 % Genes 38 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel. By Invitae in United States. NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 30 % Genes 38 %
Invitae Pediatric Solid Tumors Panel. By Invitae in United States. DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...) View the complete list with 28 more genes Panel GTR000551805 complete gene list DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 9 % Genes 50 %
Paraganglioma-pheochromocytoma syndrome , Hereditary: SDHB, SDHC and SDHD genes sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SDHD, SDHB, SDHC Specificity 100 % Genes 38 %
Paraganglioma-pheochromocytoma 3 (PGL3) syndrome , Hereditary -SDHC gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SDHC Specificity 100 % Genes 13 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 28 % Genes 38 %
Mitochondrial Diseases: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SCO1, COX10, NDUFV3, NDUFA8, COX4I1, NDUFS5, SDHD, TACO1, COX6B1, FASTKD2, LRPPRC, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3 , (...) View the complete list with 23 more genes Panel GTR000512616 complete gene list SCO1, COX10, NDUFV3, NDUFA8, COX4I1, NDUFS5, SDHD, TACO1, COX6B1, FASTKD2, LRPPRC, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, SCO2, SDHB, COX4I2, NUBPL, NDUFA10, TTC19, NDUFAF1, TMEM70, SDHC, FOXRED1, NDUFS4, SDHAF2, BCS1L, ATPAF2, UQCRB, UQCRQ Specificity 7 % Genes 38 %
Pheochromocytoma-Paraganglioma: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAX, SDHD, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 38 % Genes 38 %
Endocrine Cancer: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 31 % Genes 50 %
Hereditary Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...) View the complete list with 92 more genes Panel GTR000509427 complete gene list RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT2, AXIN2, PDGFRA, EGFR, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, TERT, MITF, ATR, FANCB, CTNNB1, ERCC3, ERCC2, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, PRKAR1A, SBDS, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, EXT1, TP53, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 50 %
Kidney Renal Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 22 % Genes 50 %
Renal/Kidney NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. BAP1, SMARCB1, MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 2 more genes Panel GTR000515841 complete gene list BAP1, SMARCB1, MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 19 % Genes 50 %
SDHC. By Fulgent Genetics Fulgent Genetics in United States. SDHC Specificity 100 % Genes 13 %
Comprehensive Cancer Panel. By Fulgent Genetics Fulgent Genetics in United States. RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...) View the complete list with 104 more genes Panel GTR000531711 complete gene list RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT1, EXT2, AXIN2, POLE, PDGFRA, GREM1, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, SMARCA4, SMARCE1, TERT, MITF, EZH2, ATR, FANCB, ERCC3, ERCC2, CASR, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 50 %
Hereditary Pediatric Cancer Panel. By Blueprint Genetics in Finland. REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...) View the complete list with 51 more genes Panel GTR000552804 complete gene list REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, SDHA, MEN1, TMEM127, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 6 % Genes 50 %
Hereditary Paraganglioma-Pheochromocytoma Panel. By Blueprint Genetics in Finland. NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 28 % Genes 38 %
Hereditary Renal Cancer Panel. By Blueprint Genetics in Finland. REST, DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN , (...) View the complete list with 6 more genes Panel GTR000552766 complete gene list REST, DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 16 % Genes 50 %
Hereditary pheochromocytoma-paraganglioma type 3. By Bioarray in Spain. SDHC Specificity 100 % Genes 13 %
PHEOCHROMOCYTOMA-PARAGANGLIOMA. By Laboratorio de Genetica Clinica SL in Spain. MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 34 % Genes 38 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 3, Sequencing SDHC/PGL3Gene. By Reference Laboratory Genetics in Spain. SDHC Specificity 100 % Genes 13 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes. By Reference Laboratory Genetics in Spain. CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...) View the complete list with 70 more genes Panel GTR000559668 complete gene list CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 50 %
Phosphorus Brain and Nervous System Cancer Panel. By Phosphorus Diagnostics LLC in United States. DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1 , (...) View the complete list with 15 more genes Panel GTR000558452 complete gene list DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 12 % Genes 50 %
Phosphorus Renal/Urinary Tract Cancer Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...) View the complete list with 7 more genes Panel GTR000558457 complete gene list DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 15 % Genes 50 %
Phosphorus Pan-Cancer Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...) View the complete list with 63 more genes Panel GTR000558459 complete gene list DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 50 %
Phosphorus Pediatric Cancers Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...) View the complete list with 33 more genes Panel GTR000558461 complete gene list DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 8 % Genes 50 %
Renal Cancer: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 3 more genes Panel GTR000560453 complete gene list BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, VHL Specificity 18 % Genes 50 %
Renal Cancer: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 2 more genes Panel GTR000560454 complete gene list BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, MSH2, VHL Specificity 19 % Genes 50 %
Endocrine Cancer: gene deletion/duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 31 % Genes 50 %
Pheochromocytoma-Paraganglioma: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MAX, SDHD, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 34 % Genes 38 %
Pheochromocytoma-Paraganglioma: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MAX, SDHD, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 34 % Genes 38 %
Pheochromocytoma Evaluation. By Athena Diagnostics Inc in United States. SDHB, RET, VHL Specificity 34 % Genes 13 %
Inherited Cancer Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...) View the complete list with 29 more genes Panel GTR000528534 complete gene list CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 25 %
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. SDHB Specificity 100 % Genes 13 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SDHB Specificity 100 % Genes 13 %
SDHB Gene Sequencing. By GeneDx in United States. SDHB Specificity 100 % Genes 13 %
Hereditary Paraganglioma/Pheochromocytoma PGL4 - SDHB Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHB Specificity 100 % Genes 13 %
Hereditary Paraganglioma/Pheochromocytoma PGL4 - SDHB Known Point Mutation Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHB Specificity 100 % Genes 13 %
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By Exeter Molecular Genetics Laboratory in United Kingdom. SDHB Specificity 100 % Genes 13 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene. By PreventionGenetics PreventionGenetics in United States. SDHB Specificity 100 % Genes 13 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...) View the complete list with 134 more genes Panel GTR000560807 complete gene list ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2, TREM2, CSF1R, COX10, MARS2, DCAF17, GJA1, CTC1, RNASET2, ADAR, CYP2U1, TUBB4A, ERCC6, GAN, CLCN2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, CLPP, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADGRG1, COL4A1, FOLR1, SLC19A3, DAG1, SPART, FA2H, CYP7B1, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, GJB1, EIF2B5, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, PPT1, PEX2, PLP1, NPC2, NPC1, IKBKG, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, MTFMT, FARS2, CYP27A1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFS2, NDUFV1, NDUFS1, SDHAF1, MOCS1, NDUFS8, SURF1, COX15, TCIRG1, PAH, ACOX1, ALDH3A2, ALDH5A1, HEXA, ABCD1, OTC, D2HGDH, TYMP, SPG7, COQ2, GFM1, TUFM, DARS2, MRPS22, SUCLA2, SDHB, SLC25A12, IDH2, SCP2, NUBPL, HMGCL, NFU1, BOLA3, DGUOK, DNM1L, COQ9, FH, RRM2B, SLC25A4, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, CPS1, HSD17B4, ADSL, TWNK, ATP7B, ATP7A, TYROBP, PC Specificity 1 % Genes 13 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics in United States. COA7, TRIT1, SFXN4, NSUN3, COQ5, TMEM126B, TRMT10C, RMND1, VARS2, TARS2, LYRM4, MRPL12, TRMT5, PARS2, MRPS7, MRPS23, MRPL44, COX7B, NDUFB11, COQ7 , (...) View the complete list with 154 more genes Panel GTR000561691 complete gene list COA7, TRIT1, SFXN4, NSUN3, COQ5, TMEM126B, TRMT10C, RMND1, VARS2, TARS2, LYRM4, MRPL12, TRMT5, PARS2, MRPS7, MRPS23, MRPL44, COX7B, NDUFB11, COQ7, IARS2, GFM2, GTPBP3, COX8A, NDUFA4, COA3, COA6, CYC1, LYRM7, UQCC2, UQCC3, NDUFB9, CARS2, ATP5F1A, UQCRC2, APOPT1, PET100, COA5, COQ4, RNASEH1, ECHS1, LIPT1, SERAC1, COX20, SLC25A1, IBA57, COQ8B, EARS2, TPK1, SCO1, COX10, NDUFV3, MARS2, DNA2, FBXL4, COX6A1, NARS2, LARS2, PNPT1, SLC19A3, SDHD, MGME1, PDHX, MTFMT, HARS2, FARS2, TACO1, APTX, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AIFM1, TAZ, PDHA1, PUS1, ETHE1, TYMP, SCO2, SPG7, COQ2, NDUFA13, PDP1, HADHB, GFM1, TK2, POLG2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, SDHB, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, AGK, COX14, NDUFA9, NDUFB3, LIAS, NDUFA12, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, OPA3, HADHA, FLAD1, ISCA2, MFN2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, NDUFS4, POLG, DLD, TRMU, OPA1, ELAC2, C12orf65, TWNK, BCS1L, ATPAF2, ATP5F1E, UQCRB, UQCRQ, YARS2, ACAD9, AARS2 Specificity 2 % Genes 25 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 38 %
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By MGZ Medical Genetics Center in Germany. SDHB Specificity 100 % Genes 13 %
Paragangliomas type 4. By Centogene AG - the Rare Disease Company in Germany. SDHB Specificity 100 % Genes 13 %
Pheochromocytoma type 2. By Centogene AG - the Rare Disease Company in Germany. SDHB Specificity 100 % Genes 13 %
Single gene testing SDHB. By CeGaT GmbH in Germany. SDHB Specificity 100 % Genes 13 %
Paraganglioma, SDHB. By GGA - Galil Genetic Analysis in Israel. SDHB Specificity 100 % Genes 13 %
Thyroid Cancer. By Asper Biogene Asper Biogene LLC in Estonia. DICER1, CDC73, PRKAR1A, SDHD, MEN1, SDHB, RET, TP53, PTEN, APC Specificity 30 % Genes 38 %
Renal Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, SDHB, FH, WT1, PTEN, VHL Specificity 28 % Genes 38 %
Thyroid Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SDHD, NRAS, KRAS, HRAS, BRAF, SDHB, RET, TP53, PTEN, MUTYH Specificity 30 % Genes 38 %
Succinate Dehydrogenase Complex. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" in Argentina. SDHD, SDHB Specificity 100 % Genes 25 %
SDHB Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SDHB Specificity 100 % Genes 13 %
Rapid microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000525320 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, CNTNAP2, TCF4, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 2 % Genes 38 %
High-Resolution Rapid Microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000560671 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, CNTNAP2, TCF4, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 2 % Genes 38 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4, Sequencing SDHB/PGL4Gene. By Reference Laboratory Genetics in Spain. SDHB Specificity 100 % Genes 13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) SDHB Gene. By Reference Laboratory Genetics in Spain. SDHB Specificity 100 % Genes 13 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes. By Reference Laboratory Genetics in Spain. DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM , (...) View the complete list with 1 more genes Panel GTR000559746 complete gene list DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL Specificity 15 % Genes 38 %
SDHB-related Hereditary Paraganglioma-Pheochromacytoma Syndrome: SDHB Gene Sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SDHB Specificity 100 % Genes 13 %
SDHB DNA Sequencing Test. By Athena Diagnostics Inc in United States. SDHB Specificity 100 % Genes 13 %
Paragangliomas 4. By Center for Human Genetics, Inc in United States. SDHB Specificity 100 % Genes 13 %
Hereditary Thyroid Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. DICER1, SRGAP1, WRN, AKT1, PIK3CA, PRKAR1A, CHEK2, SDHD, SDHB, RET, TP53, PTEN, APC Specificity 39 % Genes 63 %
Hereditary Cancer Panel Comprehensive. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. POLE, GREM1, POLD1, CTNNA1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, SDHB, TP53 , (...) View the complete list with 10 more genes Panel GTR000530120 complete gene list POLE, GREM1, POLD1, CTNNA1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, SDHB, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 7 % Genes 25 %
SDHB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SDHB Specificity 100 % Genes 13 %
Paragangliomas 4 (sequence analysis of SDHB gene). By CGC Genetics in Portugal. SDHB Specificity 100 % Genes 13 %
Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SDHD, SDHA, SDHAF1, SDHB Specificity 50 % Genes 25 %
Disorders associated with malignancy Panel. By CeGaT GmbH in Germany. DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6 , (...) View the complete list with 25 more genes Panel GTR000522365 complete gene list DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6, TERT, TERC, DKC1, ERCC3, ERCC2, NF1, RTEL1, PRKAR1A, FLCN, SDHD, STK11, NF2, PTCH1, ATM, TSC1, TSC2, TINF2, BLM, SDHB, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2 Specificity 12 % Genes 63 %
Hereditary Paraganglioma-Pheochromocytoma Syndromes, SDHB sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. SDHB Specificity 100 % Genes 13 %
Paraganglioma-pheochromocytoma 4 (PGL4) syndrome , Hereditary: SDHB gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SDHB Specificity 100 % Genes 13 %
SDHB-Related Hereditary Paraganglioma-Pheochromacytoma Syndrome: SDHB Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SDHB Specificity 100 % Genes 13 %
SDHB. By Fulgent Genetics Fulgent Genetics in United States. SDHB Specificity 100 % Genes 13 %
Hereditary pheochromocytoma-paraganglioma type 4. By Bioarray in Spain. SDHB Specificity 100 % Genes 13 %
Cowden Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. AKT1, PIK3CA, SDHD, SDHB, PTEN Specificity 100 % Genes 63 %
Somatic Overgrowth Gene Panel. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States. AKT1, AKT3, PIK3R2, GNA11, GNAQ, AKT2, PIK3CA, MTOR Specificity 25 % Genes 25 %
AKT1. By Institute for Human Genetics University Clinic Freiburg in Germany. AKT1 Specificity 100 % Genes 13 %
Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene). By CGC Genetics in Portugal. AKT1 Specificity 100 % Genes 13 %
Cowden syndrome 6 (sequence analysis of AKT1 gene). By CGC Genetics in Portugal. AKT1 Specificity 100 % Genes 13 %
Macrocephaly. By MGZ Medical Genetics Center in Germany. DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...) View the complete list with 22 more genes Panel GTR000521142 complete gene list DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B, HUWE1, CHD8, MED12, GFAP, RAB39B, CUL4B, SYN1, GRIA3, OFD1, SETD2, WASHC5, L1CAM, EIF2B5, MLC1, GPC3, CDKN1C, PTCH1, NSD1, TSC1, TSC2, ASPA, PTEN Specificity 8 % Genes 38 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center in Germany. GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...) View the complete list with 323 more genes Panel GTR000552438 complete gene list GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 38 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center in Germany. PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...) View the complete list with 322 more genes Panel GTR000552442 complete gene list PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 38 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 2 % Genes 38 %
Cancer Hotspot Panel. By Centogene AG - the Rare Disease Company in Germany. MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...) View the complete list with 68 more genes Panel GTR000527970 complete gene list MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO, CDKN2B, ERBB2, DDR2, MDM2, CCND1, KDR, PDGFRB, CDK6, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, ATR, MTOR, CTNNB1, FGFR1, NF1, NTRK1, MPL, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, TSC2, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, GNAT2, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 38 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 38 %
Cowden disease. By Centogene AG - the Rare Disease Company in Germany. AKT1 Specificity 100 % Genes 13 %
AKT1 Gene Sequencing. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. AKT1 Specificity 100 % Genes 13 %
AKT1. By Fulgent Genetics Fulgent Genetics in United States. AKT1 Specificity 100 % Genes 13 %
Onco microarray for CLL. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. BCL3, FGF2, MYB, MYBL1, BCL10, BCL11A, MYC, BCL6, BCL2, CCND1, ITK, AKT1, IGH, ATM, ALK, TP53 Specificity 7 % Genes 13 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...) View the complete list with 226 more genes Panel GTR000558787 complete gene list CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, TBX3, MATN3, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, AKT1, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, GJA1, GNAS, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, EBP, FANCB, PTH1R, CANT1, WDR35, KAT6B, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, SETBP1, ANKRD11, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, RNU4ATAC, NF1, LMNA, TRPV4, SLC26A2, PEX7, PRKAR1A, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PTPN11, IDS, CREBBP, COL10A1, FANCC, FGFR3, ARSB, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 25 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 25 %
Focus::Oncomine™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1 , (...) View the complete list with 15 more genes Panel GTR000557735 complete gene list JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1, MET, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET Specificity 6 % Genes 25 %
Focus::Renal® NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. RHEB, HIF1A, PBRM1, EPHB4, ROS1, AXL, SMO, ERBB2, PDGFRB, AKT1, ABL1, EGFR, FLT3, AKT2, PIK3CA, BAP1, KIT, ARID1A, MTOR, KDM5C , (...) View the complete list with 12 more genes Panel GTR000557739 complete gene list RHEB, HIF1A, PBRM1, EPHB4, ROS1, AXL, SMO, ERBB2, PDGFRB, AKT1, ABL1, EGFR, FLT3, AKT2, PIK3CA, BAP1, KIT, ARID1A, MTOR, KDM5C, SETD2, FGFR1, MET, PTCH1, ALK, TSC1, TSC2, BRAF, RAF1, TP53, PTEN, VHL Specificity 10 % Genes 38 %
Somatic Overgrowth Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SMO, AKT1, AKT3, PIK3R2, GNA11, IDH1, GNAQ, AKT2, PIK3CA, MTOR, RASA1, TSC1, TSC2, IDH2, PTEN Specificity 20 % Genes 38 %
Solid Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...) View the complete list with 102 more genes Panel GTR000515819 complete gene list BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2, KEAP1, ERBB4, PPP2R1A, FAT1, RXRA, MYC, MN1, AFF3, ERBB2, DDR2, CDK12, CCND1, MAP3K3, KDR, FLT1, PDGFRB, CDK6, NTRK2, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, FLT3, AKT2, POLD1, CSF1R, PIK3CA, GATA4, CDKN1B, BAP1, FANCA, SMAD2, GNAS, KIT, FLT4, TEK, SMARCB1, SMARCA4, ERBB3, TERT, TGFBR2, NOTCH1, MTOR, SPRED1, CTNNB1, MED12, ERCC2, KDM5C, ATRX, SETD2, KMT2D, FGFR1, NF1, NTRK1, BRIP1, SMAD4, CHEK2, MET, CDKN2A, STK11, CDH1, PALB2, NF2, ATM, ALK, TSC1, TSC2, MAP2K2, RIT1, FGFR2, SOS1, SHOC2, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, WT1, PPARG, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 38 %
Head & Neck Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...) View the complete list with 21 more genes Panel GTR000553952 complete gene list RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4, ASXL1, EP300, KDM6A, TGFBR2, NOTCH1, MTOR, KMT2D, NF1, SMAD4, CDKN2A, ATM, NSD1, NRAS, KRAS, HRAS, RB1, TP53, PTEN, APC, BRCA2, BRCA1 Specificity 8 % Genes 38 %
Thoracic Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...) View the complete list with 16 more genes Panel GTR000553982 complete gene list KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1, NTRK1, MET, CDKN2A, STK11, ATM, ALK, TSC1, TSC2, RIT1, NRAS, KRAS, HRAS, BRAF, RET, RB1, TP53 Specificity 3 % Genes 13 %
Cancer Hotspot Analysis. By Advanced Technology Laboratory Spectrum Health in United States. ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...) View the complete list with 30 more genes Panel GTR000528929 complete gene list ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, CTNNB1, FGFR1, MPL, SMAD4, MET, CDKN2A, STK11, CDH1, ATM, ALK, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, FGFR3, IDH2, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL Specificity 6 % Genes 38 %
Circulo Colorectal. By Circulogene Theranostics in United States. AKT1 Specificity 100 % Genes 13 %
Circulo Lung. By Circulogene Theranostics in United States. AKT1 Specificity 100 % Genes 13 %
OmniSeq Comprehensive. By OmniSeq, Inc. in United States. NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...) View the complete list with 124 more genes Panel GTR000552042 complete gene list NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2, MCL1, MAGOH, CSNK2A1, DCUN1D1, PDCD1LG2, ERG, CD274, MYO18A, IFITM3, CD44, MAPK1, ESR1, FGFR4, NTRK3, MYCL, ROS1, ARAF, NFE2L2, CCNE1, IL6, RAC1, ERBB4, PPP2R1A, AXL, BIRC3, MYC, SMO, ERBB2, DDR2, MDM2, IGF1R, ETV5, CCND1, KDR, CDK6, SRC, NTRK2, PIK3R1, AKT1, AKT3, GNA11, FBXW7, IDH1, MYD88, PDGFRA, SF3B1, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, BAP1, GNAS, JAK3, KIT, SMARCB1, ERBB3, NKX2-1, TERT, ACVRL1, EZH2, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, GATA3, FGFR1, NF1, NTRK1, BTK, MPL, PAX5, GATA2, SMAD4, MAX, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, PNP, STAT3, SOX2, IDH2, RAF1, RET, RB1, WT1, PPARG, HNF1A, FOXL2, TP53, PTEN, MLH1, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 38 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes. By Reference Laboratory Genetics in Spain. PDCD1, IRF4, CXCL12, TNFRSF4, IKBKB, IL21R, IL21, NFKB1, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19 , (...) View the complete list with 21 more genes Panel GTR000559530 complete gene list PDCD1, IRF4, CXCL12, TNFRSF4, IKBKB, IL21R, IL21, NFKB1, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19, PIK3R1, IL17F, CTLA4, NFKBIA, PIK3CD, CXCR4, AKT1, RAG1, RAG2, CD40LG, CD40, AICDA, TNFRSF13B, SH2D1A, BTK, DCLRE1C, GATA2, IKBKG, STAT3, TGFB1, STAT1 Specificity 3 % Genes 13 %
152 Integrated Advantage NGS Solid Tumor Panel. By Integrated Molecular Diagnostics Pathology, Inc. in United States. AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...) View the complete list with 132 more genes Panel GTR000556804 complete gene list AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1, PBRM1, DAXX, CYP2C8, EPHA3, CDK8, CCND3, CDKN1A, GSK3B, GSTP1, CYP2B6, RRM1, ESR1, FGFR4, ROS1, RPTOR, NFE2L2, KEAP1, CCNE1, PARP1, ERBB4, AXL, MYC, SMO, ERCC1, ERBB2, DDR2, MDM2, IGF1R, BCL2, CCND1, XPC, DHFR, SLCO1B1, TNFAIP3, KDR, FLT1, RAD51, XPA, ERCC5, PDGFRB, SRC, MAP3K1, PRKCD, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, GNA11, FBXW7, IDH1, MYD88, PDGFRA, TET2, JAK2, EGFR, TPMT, FLT3, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, CYP2D6, FANCD2, CYP2C19, FANCA, SPARC, GNAS, JAK3, KIT, EP300, FLT4, ERBB3, MITF, EZH2, TGFBR2, NOTCH1, ATR, ABCB1, MTOR, GATA1, CTNNB1, MED12, ERCC2, HGF, ATRX, FGFR1, NF1, NTRK1, DPYD, UGT1A1, RAD51C, RAD50, SMAD4, CHEK2, MET, CDKN2A, CDK4, STK11, MRE11, ATM, ALK, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, FANCC, AR, FGFR3, STAT3, TYMP, IDH2, RAF1, RET, RB1, TP53, PTEN, MLH1, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 2 % Genes 38 %
CEN4GEN Lung cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...) View the complete list with 24 more genes Panel GTR000560395 complete gene list ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA, BAP1, KIT, SMARCA4, NOTCH1, KMT2D, FGFR1, NF1, PKHD1, SMAD4, MET, CDKN2A, STK11, ATM, ALK, FGFR2, KRAS, BRAF, SOX2, RET, RB1, TP53, PTEN, MLH1, APC Specificity 7 % Genes 38 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...) View the complete list with 28 more genes Panel GTR000560474 complete gene list ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3, KIT, SMARCB1, NOTCH1, CTNNB1, FGFR1, MPL, SMAD4, MET, CDKN2A, STK11, CDH1, ATM, ALK, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, FGFR3, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL Specificity 7 % Genes 38 %
Segmental Overgrowth Disorders - NGS panel (8 genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. AKT1, AKT3, PIK3R2, PIK3CA, MTOR, TSC1, TSC2, PTEN Specificity 38 % Genes 38 %
Proteus Syndrome (sequence analysis of AKT1 gene). By CGC Genetics in Portugal. AKT1 Specificity 100 % Genes 13 %
Custom solid tumor gene sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...) View the complete list with 25 more genes Panel GTR000560775 complete gene list RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ, PIK3CA, BAP1, KIT, ERBB3, MTOR, CTNNB1, ERCC2, HGF, GRIN2A, NF1, MET, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, RET, TYRP1, FOXL2, TP53, PTEN, APC Specificity 7 % Genes 38 %
Megalencephaly. By MGZ Medical Genetics Center in Germany. CCND2, AKT1, AKT3, PIK3R2, PIK3CA, TSC1, TSC2, PTEN Specificity 38 % Genes 38 %
Solid Tumor Panel. By Centogene AG - the Rare Disease Company in Germany. KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...) View the complete list with 42 more genes Panel GTR000527971 complete gene list KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA, GNAS, JAK3, ASXL1, KIT, ARID1A, SMARCB1, SMARCA4, KMT2A, KDM6A, NOTCH1, MTOR, CTNNB1, KMT2D, FGFR1, NF1, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, PTCH1, ATM, ALK, TSC1, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RET, RB1, TP53, PTEN, MLH1, APC, VHL Specificity 5 % Genes 38 %
Invitae Proteus Syndrome Test. By Invitae in United States. AKT1 Specificity 100 % Genes 13 %
Proteus Syndrome: AKT1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AKT1 Specificity 100 % Genes 13 %
Proteus syndrome, somatic: AKT1 gene mutation analysis (p.Glu17Lys). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AKT1 Specificity 100 % Genes 13 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2 , (...) View the complete list with 24 more genes Panel GTR000531440 complete gene list PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2, EGFR, PIK3CA, CD2AP, JAK3, SPRED1, ANKRD11, SHOX, NF1, MET, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, IL2RG, RAF1, PRKCG Specificity 5 % Genes 25 %
Hemato-oncology chromosomal microarray. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. NUTM2B, NUTM2A, SSX2, MALAT1, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, ACSL3, RABEP1, SSX1, SS18, POU5F1, HEY1, JUN , (...) View the complete list with 72 more genes Panel GTR000527837 complete gene list NUTM2B, NUTM2A, SSX2, MALAT1, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, ACSL3, RABEP1, SSX1, SS18, POU5F1, HEY1, JUN, ASPSCR1, LMO1, MAP2K4, PATZ1, PBRM1, DDIT3, FEV, ERG, NCOA2, NCOA1, HIP1, CREB1, FOXA1, PAX7, TAF15, EWSR1, ABI1, SS18L1, NTRK3, CCNE1, PPP2R1A, CIC, SMO, YWHAE, PTCH2, ERBB2, CHN1, CDK12, CCND1, KDR, DICER1, TCF12, FLI1, PIK3R1, STAT5B, EXT1, EXT2, AKT1, ETV6, STAG2, HOXA11, AKT2, MYCN, PIK3CA, BAP1, CREB3L1, DUX4, EP300, SMARCB1, TERT, CTNNB1, GATA3, PAX3, KDM5C, SETD2, FUS, CDH1, SUFU, PHOX2B, PTCH1, ALK, HRAS, BRAF, BLM, RB1, COL1A1, TP53, MLH1, MSH2, APC, BRCA2, BRCA1 Specificity 3 % Genes 25 %
Macrocephaly / Overgrowth Syndrome Panel. By Blueprint Genetics in Finland. EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...) View the complete list with 23 more genes Panel GTR000552655 complete gene list EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B, HUWE1, CHD8, MED12, GFAP, RAB39B, CUL4B, SYN1, GRIA3, OFD1, PIGA, SETD2, WASHC5, L1CAM, EIF2B5, MLC1, GPC3, CDKN1C, PTCH1, NSD1, TSC1, TSC2, ASPA, PTEN Specificity 7 % Genes 38 %
CNS Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...) View the complete list with 28 more genes Panel GTR000522547 complete gene list H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, WNT1, SMARCB1, SMARCA4, TERT, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, ATRX, SETD2, FGFR1, NF1, NTRK1, MET, CDKN2A, SUFU, NF2, PTCH1, FGFR2, KRAS, BRAF, IDH2, SHH, RB1, WT1, TP53, PTEN Specificity 7 % Genes 38 %
Melanoma Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D , (...) View the complete list with 18 more genes Panel GTR000522548 complete gene list KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D, FGFR1, NF1, MET, CDKN2A, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, RET, RB1, TP53, PTEN Specificity 8 % Genes 38 %
Breast Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...) View the complete list with 22 more genes Panel GTR000553949 complete gene list RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MAP2K2, FGFR2, MAP2K1, KRAS, HRAS, BRAF, IDH2, RET, RB1, TP53, RUNX1, PTEN, BRCA2, BRCA1 Specificity 8 % Genes 38 %
Genitourinary Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...) View the complete list with 24 more genes Panel GTR000553950 complete gene list PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2, KDM5C, SETD2, KMT2D, NF1, MET, CDKN2A, PTCH1, ATM, TSC1, TSC2, FGFR2, NRAS, HRAS, CREBBP, BRAF, AR, FGFR3, PPARG, TP53, PTEN, MLH1, VHL, BRCA2, BRCA1 Specificity 7 % Genes 38 %
Gynecologic Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...) View the complete list with 30 more genes Panel GTR000553951 complete gene list ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3, KIT, EP300, MTOR, CTNNB1, MED12, FGFR1, NF1, SMAD4, MET, CDKN2A, STK11, ATM, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, BCOR, RB1, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 6 % Genes 38 %
AKT1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. AKT1 Specificity 100 % Genes 13 %
Guardant360. By Guardant Health in United States. MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...) View the complete list with 53 more genes Panel GTR000527948 complete gene list MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7, IDH1, PDGFRA, JAK2, EGFR, NPM1, GNAQ, PIK3CA, GNAS, JAK3, KIT, ARID1A, TERT, EZH2, NOTCH1, MTOR, CTNNB1, GATA3, FGFR1, NF1, NTRK1, MPL, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, ATM, ALK, TSC1, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 38 %
Comprehensive Panel for Individualized Cancer Threatment. By GeneKor MSA in Greece. ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...) View the complete list with 32 more genes Panel GTR000527980 complete gene list ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, CTNNB1, HGF, FGFR1, NTRK1, MPL, SMAD4, CDKN2A, CDH1, ATM, ALK, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, IDH2, RET, RB1, HNF1A, TP53, PTEN, APC, VHL Specificity 6 % Genes 38 %
Circulo Breast. By Circulogene Theranostics in United States. AKT1 Specificity 100 % Genes 13 %
Solid Tumor Targeted Mutation and Fusion Panel. By Providence Regional Laboratories Providence Health and Services in United States. ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...) View the complete list with 30 more genes Panel GTR000556836 complete gene list ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, MYCN, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1, FGFR1, NTRK1, MET, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET, PPARG Specificity 4 % Genes 25 %
Proteus Syndrome, Sequencing AKT1 Gene. By Reference Laboratory Genetics in Spain. AKT1 Specificity 100 % Genes 13 %
CEN4GEN Breast cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. WEE1, ACVR1B, PTGFR, ZBED4, ZNF226, TRAF5, PPM1L, MAP2K4, PCGF2, PBRM1, FBXO32, EXOC2, NCOR1, MUC16, ESR1, KMT2C, ITCH, MYC, CBFB, ERBB2 , (...) View the complete list with 25 more genes Panel GTR000560392 complete gene list WEE1, ACVR1B, PTGFR, ZBED4, ZNF226, TRAF5, PPM1L, MAP2K4, PCGF2, PBRM1, FBXO32, EXOC2, NCOR1, MUC16, ESR1, KMT2C, ITCH, MYC, CBFB, ERBB2, MDM2, MAP3K1, PIK3R1, IRAK4, EXT2, AKT1, EGFR, PIK3CA, BAP1, EP300, ERBB3, NEK2, GATA3, FGFR1, CDKN2A, CDH1, ATM, FGFR2, SEPT9, RET, RB1, TP53, PTEN, BRCA2, BRCA1 Specificity 7 % Genes 38 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7 , (...) View the complete list with 18 more genes Panel GTR000560393 complete gene list MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7, PIK3CA, SMAD2, EP300, SLC9A9, TGFBR2, CTNNB1, SMAD4, ATM, NRAS, KRAS, DMD, BRAF, CASP8, TP53, MLH1, MSH6, MSH2, APC Specificity 6 % Genes 25 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KREMEN1, USP16, MAS1L, CSMD3, FAT3, GABRA6, CCNE1, PPP2R1A, ERBB2, CDK12, PIK3R1, AKT1, CBLC, PDGFRA, EGFR, PIK3CA, KIT, ARID1A, CTNNB1, NF1 , (...) View the complete list with 12 more genes Panel GTR000560396 complete gene list KREMEN1, USP16, MAS1L, CSMD3, FAT3, GABRA6, CCNE1, PPP2R1A, ERBB2, CDK12, PIK3R1, AKT1, CBLC, PDGFRA, EGFR, PIK3CA, KIT, ARID1A, CTNNB1, NF1, CDKN2A, NRAS, KRAS, BRAF, CUBN, RB1, TP53, PTEN, MLH1, MSH2, BRCA2, BRCA1 Specificity 10 % Genes 38 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...) View the complete list with 12 more genes Panel GTR000560473 complete gene list ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS, HRAS, BRAF, IDH2, RET, RB1, WT1, TP53, PTEN, APC, VHL, BRCA2, BRCA1 Specificity 10 % Genes 38 %
Proteus Syndrome: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. AKT1 Specificity 100 % Genes 13 %
KLLN. By Fulgent Genetics Fulgent Genetics in United States. KLLN Specificity 100 % Genes 13 %
Hereditary Paraganglioma. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. SDHD Specificity 100 % Genes 13 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 13 %
SDHD Gene Sequencing. By GeneDx in United States. SDHD Specificity 100 % Genes 13 %
SDHD. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SDHD Specificity 100 % Genes 13 %
Hereditary Paraganglioma/Pheochromocytoma PGL1 - SDHD Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHD Specificity 100 % Genes 13 %
Paragangliomas 1 (sequence analysis of SDHD gene). By CGC Genetics in Portugal. SDHD Specificity 100 % Genes 13 %
SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By Exeter Molecular Genetics Laboratory in United Kingdom. SDHD Specificity 100 % Genes 13 %
SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. By MGZ Medical Genetics Center in Germany. SDHD Specificity 100 % Genes 13 %
Single gene testing SDHD. By CeGaT GmbH in Germany. SDHD Specificity 100 % Genes 13 %
Paraganglioma, SDHD. By GGA - Galil Genetic Analysis in Israel. SDHD Specificity 100 % Genes 13 %
Paraganglioma-pheochromocytoma 1 (PGL1) syndrome , Hereditary: SDHD gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SDHD Specificity 100 % Genes 13 %
SDHD. By Fulgent Genetics Fulgent Genetics in United States. SDHD Specificity 100 % Genes 13 %
SDHD Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SDHD Specificity 100 % Genes 13 %
Paragangliomas 1. By Center for Human Genetics, Inc in United States. SDHD Specificity 100 % Genes 13 %
Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SDHD Specificity 100 % Genes 13 %
Hereditary Paraganglioma/Pheochromocytoma PGL1 - SDHD Known Point Mutation Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SDHD Specificity 100 % Genes 13 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome via SDHD Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SDHD Specificity 100 % Genes 13 %
Pheochromocytoma type 4. By Centogene AG - the Rare Disease Company in Germany. SDHD Specificity 100 % Genes 13 %
SDHD. By Innovagenomics Innovagenomics S.L in Spain. SDHD Specificity 100 % Genes 13 %
Hereditary Paraganglioma-Pheochromocytoma Syndromes, SDHD sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. SDHD Specificity 100 % Genes 13 %
Hereditary pheochromocytoma-paraganglioma type 1. By Bioarray in Spain. SDHD Specificity 100 % Genes 13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 1, Sequencing SDHD/PGL1Gene. By Reference Laboratory Genetics in Spain. SDHD Specificity 100 % Genes 13 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) SDHD Gene. By Reference Laboratory Genetics in Spain. SDHD Specificity 100 % Genes 13 %
PTEN Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. PTEN Specificity 100 % Genes 13 %
PTEN Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. PTEN Specificity 100 % Genes 13 %
PTEN Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. PTEN Specificity 100 % Genes 13 %
PTEN Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. PTEN Specificity 100 % Genes 13 %
High Risk Hereditary Colorectal Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 9 % Genes 13 %
PTEN Sequencing Test. By Athena Diagnostics Inc in United States. PTEN Specificity 100 % Genes 13 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...) View the complete list with 63 more genes Panel GTR000522577 complete gene list NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, SETBP1, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, TBL1XR1, SETD2, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, SYNE1, L1CAM, SCN1A, NSD1, NIPBL, TSC1, SMC1A, SMC3, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, TMLHE, ALDH5A1, SLC9A6, AMT, TUBA1A, STXBP1, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 13 %
PTEN related disorders. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PTEN Specificity 100 % Genes 13 %
NGS Vascular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2 , (...) View the complete list with 1 more genes Panel GTR000552465 complete gene list FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2, PTEN Specificity 5 % Genes 13 %
PTEN Hamartoma Tumor Syndrome. By Center for Human Genetics, Inc in United States. PTEN Specificity 100 % Genes 13 %
Macrocephaly/autism syndrome. By Center for Human Genetics, Inc in United States. PTEN Specificity 100 % Genes 13 %
Comprehensive breast and ovarian cancer panel testing (18 genes). By Molecular Genetics Laboratory North York General Hospital in Canada. RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 6 % Genes 13 %
PTEN Related Disorders - Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. PTEN Specificity 100 % Genes 13 %
PTEN Related Disorders - Del/Dup Analysis. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. PTEN Specificity 100 % Genes 13 %
Autsim Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...) View the complete list with 87 more genes Panel GTR000528547 complete gene list NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SMARCB1, MAGEL2, SNRPN, RPL10, UBE2A, AFF2, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 13 %
Macrocephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PIK3CA, GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, PTCH1, NSD1, PTEN Specificity 19 % Genes 25 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...) View the complete list with 72 more genes Panel GTR000552328 complete gene list VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6, TAF1, AP1S2, FUCA1, VPS13A, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, WDR45, ATP13A2, PRRT2, KCNQ2, SLC19A3, ATP1A3, ATP1A2, CHMP2B, DCTN1, FA2H, KIF1A, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, MAPT, PLA2G6, MCOLN1, TH, ATM, SLC2A1, PLP1, NPC2, FOXG1, GBA, ARX, ARSA, PDHX, PNKD, APTX, PRKN, CYP27A1, FASTKD2, GCDH, L2HGDH, DLAT, SDHAF1, MPV17, QDPR, PTS, SUOX, MMADHC, TIMM8A, SQSTM1, PINK1, PARK7, SUCLA2, SPR, GAMT, SCP2, PANK2, FOXRED1, AFG3L2, POLG, TRIM32, HPRT1, PSEN1, AUH, ATP7B, PTEN Specificity 2 % Genes 13 %
VistaSeq Hereditary Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...) View the complete list with 7 more genes Panel GTR000531737 complete gene list ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Vistaseq Hereditary Cancer Panel Without BRCA. By Molecular Diagnostic Laboratory LabCorp in United States. ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...) View the complete list with 5 more genes Panel GTR000531738 complete gene list ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 4 % Genes 13 %
VistaSeq High/Moderate Risk Breast Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 12 % Genes 13 %
VistaSeq GYN Panel. By Molecular Diagnostic Laboratory LabCorp in United States. CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 10 % Genes 13 %
PTEN Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PTEN Specificity 100 % Genes 13 %
Macrocephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...) View the complete list with 1 more genes Panel GTR000560750 complete gene list RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1, PTEN Specificity 5 % Genes 13 %
Colorectal Polyposis Panel. By Genetic Services Laboratory University of Chicago in United States. BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC Specificity 9 % Genes 13 %
Hereditary Breast and Ovarian Cancer High Risk Panel. By Genetic Services Laboratory University of Chicago in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
Comprehensive Hereditary Breast/Ovarian Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Hereditary Cancer Panel - High Penetrance 16. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 7 % Genes 13 %
Comprehensive Cancer Panel. By GeneDx in United States. AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...) View the complete list with 9 more genes Panel GTR000520394 complete gene list AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Breast Cancer High Risk Panel and PALB2. By GeneDx in United States. CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 17 % Genes 13 %
Oncology High/Moderate Risk Panel. By GeneDx in United States. RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...) View the complete list with 3 more genes Panel GTR000520865 complete gene list RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 13 %
Breast/Ovarian Cancer Panel. By GeneDx in United States. XRCC2, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
Colorectal Cancer Panel. By GeneDx in United States. AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
Endometrial Cancer Panel. By GeneDx in United States. POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 9 % Genes 13 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1 , (...) View the complete list with 6 more genes Panel GTR000553155 complete gene list ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Autism/Intellectual Disability/Multiple Anomalies. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...) View the complete list with 69 more genes Panel GTR000327662 complete gene list ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, KMT2D, PAFAH1B1, RELN, PQBP1, DCX, MBD5, FOLR1, GABRB3, ASPM, L1CAM, FGFR1, NF1, SCN1A, MET, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, HDAC8, FGFR2, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PCDH19, NRAS, MEF2C, MAP2K1, KRAS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, FGFR3, SLC9A6, TUBA1A, MECP2, RAF1, MKKS, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 13 %
Hereditary Cancer Panel - Colorectal20. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 5 % Genes 13 %
Hereditary Cancer Panel - Breast/Ovarian17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 6 % Genes 13 %
PTEN Hamartoma Tumur Syndrome (PHTS). By Genetic Pathology SA Pathology in Australia. PTEN Specificity 100 % Genes 13 %
AutismNext. By Ambry Genetics in United States. POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...) View the complete list with 28 more genes Panel GTR000560496 complete gene list POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, CHD2, GRIN2B, SCN2A, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, RAI1, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, SLC6A8, SLC9A6, MECP2, PTEN, UBE3A, FMR1 Specificity 3 % Genes 13 %
BrainTumorNext. By Ambry Genetics in United States. DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53 , (...) View the complete list with 7 more genes Panel GTR000560499 complete gene list DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 4 % Genes 13 %
CancerNext. By Ambry Genetics in United States. HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 14 more genes Panel GTR000560509 complete gene list HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 3 % Genes 13 %
CustomNext: Neuro. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 13 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 13 %
OvaNext. By Ambry Genetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000560607 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
PTEN gene sequence and deletion/duplication. By Ambry Genetics in United States. PTEN Specificity 100 % Genes 13 %
TumorNext-HRD+CancerNext. By Ambry Genetics in United States. HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 14 more genes Panel GTR000560649 complete gene list HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 3 % Genes 13 %
TumorNext-Lynch+CancerNext. By Ambry Genetics in United States. HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 17 more genes Panel GTR000560650 complete gene list HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, BRAF, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 3 % Genes 13 %
TumorNext-HRD+OvaNext. By Ambry Genetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000560651 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
TumorNext-Lynch+OvaNext. By Ambry Genetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000560657 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
IDNext. By Ambry Genetics in United States. KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...) View the complete list with 120 more genes Panel GTR000560575 complete gene list KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, NEXMIF, PURA, DNM1, HNRNPU, FLNA, PQBP1, DCX, DEPDC5, ALG13, MBD5, GRIN2A, CHD2, PNPO, HCN1, GRIN2B, FOLR1, STX1B, SCN2A, DYNC1H1, KIF1A, L1CAM, CACNA1A, PPT1, GPC3, NSD1, NIPBL, SMC1A, SMC3, SYNGAP1, RAD21, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, CREBBP, CHD7, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, SLC25A22, TUSC3, GATM, GAMT, MECP2, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 13 %
PTEN mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. PTEN Specificity 100 % Genes 13 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. ANTXR1, DOCK6, MAP3K3, KDR, GNAQ, PIK3CA, TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4 , (...) View the complete list with 1 more genes Panel GTR000529123 complete gene list ANTXR1, DOCK6, MAP3K3, KDR, GNAQ, PIK3CA, TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN Specificity 10 % Genes 25 %
PTEN. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTEN Specificity 100 % Genes 13 %
PTEN. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTEN Specificity 100 % Genes 13 %
PTEN. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTEN Specificity 100 % Genes 13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Deletion/Duplication Analaysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PTEN Specificity 100 % Genes 13 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000530255 complete gene list WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Hereditary Melanoma Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. WRN, BAP1, TERT, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2, BRCA1 Specificity 10 % Genes 13 %
Cowden Syndrome (deletion/duplication analysis of PTEN gene). By CGC Genetics in Portugal. PTEN Specificity 100 % Genes 13 %
Cowden syndrome (sequence analysis of PTEN gene). By CGC Genetics in Portugal. PTEN Specificity 100 % Genes 13 %
Colorectal Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
PTEN Hamartoma Tumor Syndrome via PTEN Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PTEN Specificity 100 % Genes 13 %
Hereditary Endometrial Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 9 % Genes 13 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...) View the complete list with 87 more genes Panel GTR000558794 complete gene list MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L, ABCA7, MYT1L, MED13L, BCL11A, CACNA2D3, POGZ, CUL3, ASXL3, CC2D1A, C12orf57, ZNF407, SETD5, ZMYND11, GRIP1, TBC1D20, PACS1, AUTS2, KATNAL2, KMT2A, MAGEL2, ANK2, NFIX, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, CACNA1C, EHMT1, FOXP1, ADNP, PTCHD1, SHANK2, SHANK3, VPS13B, RAB39B, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, NEXMIF, RELN, PQBP1, DEAF1, BCKDK, MBD5, CHD2, KCNQ3, HCN1, GRIN2B, FOLR1, SLC6A1, SCN2A, GABRB3, SPAST, SCN1A, POMGNT1, SMAD4, NSD1, TSC1, RAD21, TSC2, RAI1, PCDH19, KRAS, FOXG1, DHCR7, CHD7, CDKL5, BRAF, ARX, SGSH, SLC9A6, MAOA, STXBP1, GATM, GAMT, MECP2, NDP, MFRP, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 13 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000558878 complete gene list DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 1 % Genes 13 %
Vascular malformations Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN Specificity 6 % Genes 13 %
Vascular malformations NGS panel. By Connective Tissue Gene Tests in United States. ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN Specificity 6 % Genes 13 %
Colorectal Cancer. By MGZ Medical Genetics Center in Germany. BUB1B, PMS1, SMAD4, BMPR1A, CHEK2, MET, STK11, NBN, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC Specificity 7 % Genes 13 %
Polyposis Coli. By MGZ Medical Genetics Center in Germany. SMAD4, BMPR1A, CHEK2, STK11, PTEN, MUTYH, APC Specificity 15 % Genes 13 %
CentoBreast (hereditary breast cancer) panel. By Centogene AG - the Rare Disease Company in Germany. BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 8 % Genes 13 %
Prostate cancer panel. By Centogene AG - the Rare Disease Company in Germany. HOXB13, CHEK2, NBN, TP53, PTEN, MLH1, MSH6, MSH2, BRCA2, BRCA1 Specificity 10 % Genes 13 %
CentoColon extended panel. By Centogene AG - the Rare Disease Company in Germany. NTHL1, POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
Cowden disease. By Centogene AG - the Rare Disease Company in Germany. PTEN Specificity 100 % Genes 13 %
Autism Spectrum Disorders / Intellectual Disability. By Michigan Medical Genetics Laboratories University of Michigan in United States. MECP2, PTEN Specificity 50 % Genes 13 %
Macrocephaly Panel. By CeGaT GmbH in Germany. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN Specificity 12 % Genes 25 %
Parkinson all Panel. By CeGaT GmbH in Germany. TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1 , (...) View the complete list with 28 more genes Panel GTR000522458 complete gene list TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1, RAB39B, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, ATXN3, ATXN2, MAPT, SPG11, ZFYVE26, PLA2G6, TH, GBA, PRKN, PINK1, PARK7, GRN, HTRA2, SPR, PANK2, POLG, COMT, PTEN, FMR1 Specificity 3 % Genes 13 %
PTEN. By Innovagenomics Innovagenomics S.L in Spain. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PTEN Hamartoma Tumor Syndrome (PHTS). By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. PTEN Specificity 100 % Genes 13 %
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. EPHB4, STAMBP, RASA1, PTEN Specificity 25 % Genes 13 %
VATER association with macrocephaly and ventriculomegaly. By Praxis fuer Humangenetik Wien in Austria. PTEN Specificity 100 % Genes 13 %
PTEN Gene Sequencing. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. PTEN Specificity 100 % Genes 13 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1 Specificity 1 % Genes 13 %
qCancer Risk. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53 , (...) View the complete list with 10 more genes Panel GTR000552849 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
qCancer Mama. By Quantitative Genomic Medicine Laboratories, SL in Spain. CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 12 % Genes 13 %
qCancer Gine. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000552856 complete gene list POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
qCancer Colorrectal. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
VATER association with macrocephaly and ventriculomegaly. By MedGene in Slovakia. PTEN Specificity 100 % Genes 13 %
Invitae Breast Cancer Panel. By Invitae in United States. NF1, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 8 % Genes 13 %
Invitae Breast Cancer Guidelines-Based Panel. By Invitae in United States. NF1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 10 % Genes 13 %
Invitae Melanoma Panel. By Invitae in United States. POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2 Specificity 12 % Genes 13 %
Invitae Breast and Gyn Cancers Guidelines-Based Panel. By Invitae in United States. NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Invitae Pediatric Nervous System/Brain Tumors Panel. By Invitae in United States. DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000551798 complete gene list DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 5 % Genes 13 %
Invitae Breast and Gyn Cancers Panel. By Invitae in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 3 more genes Panel GTR000514929 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
Invitae PTEN-Related Disorders Test. By Invitae in United States. PTEN Specificity 100 % Genes 13 %
Invitae Colorectal Cancer Guidelines-Based Panel. By Invitae in United States. SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 9 % Genes 13 %
Invitae Overgrowth and Macrocephaly Syndromes Panel. By Invitae in United States. NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN Specificity 5 % Genes 13 %
PTEN: PTEN gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PTEN Specificity 100 % Genes 13 %
COLON, BREAST AND OVARIAN CANCER. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS , (...) View the complete list with 11 more genes Panel GTR000531571 complete gene list MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Cowden Syndrome: PTEN Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTEN Specificity 100 % Genes 13 %
Cowden Syndrome: PTEN Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTEN Specificity 100 % Genes 13 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...) View the complete list with 6 more genes Panel GTR000512417 complete gene list IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA, HPS4, HPS6, HPS1, SLC37A4, RET, PTEN Specificity 4 % Genes 13 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000523233 complete gene list XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
Melanoma: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. WRN, GNAQ, PIK3CA, BAP1, KIT, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, BRAF, RB1, PTEN Specificity 16 % Genes 25 %
Gastrointestinal and Colorectal Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...) View the complete list with 39 more genes Panel GTR000558536 complete gene list NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 13 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...) View the complete list with 6 more genes Panel GTR000558821 complete gene list IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA, HPS4, HPS6, HPS1, SLC37A4, RET, PTEN Specificity 4 % Genes 13 %
Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Leukoencephalopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. FAM126A, LMNB1, HEPACAM, CSF1R, HTRA1, GFAP, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, MLC1, PLP1, GJC2, EIF2B1, ASPA, ARSA, ACOX1, ALDH3A2, DARS2 , (...) View the complete list with 6 more genes Panel GTR000509431 complete gene list FAM126A, LMNB1, HEPACAM, CSF1R, HTRA1, GFAP, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, MLC1, PLP1, GJC2, EIF2B1, ASPA, ARSA, ACOX1, ALDH3A2, DARS2, SLC25A12, ABAT, SCP2, HSPD1, PSAP, PTEN Specificity 4 % Genes 13 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 1 % Genes 13 %
PTEN. By Fulgent Genetics Fulgent Genetics in United States. PTEN Specificity 100 % Genes 13 %
Focus Cancer Panel - 40 Genes. By Fulgent Genetics Fulgent Genetics in United States. RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 20 more genes Panel GTR000529345 complete gene list RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, FANCC, MEN1, RET, TP53, PTEN, MUTYH, MLH1, POLD1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 13 %
Breast Cancer Focus Panel. By Fulgent Genetics Fulgent Genetics in United States. BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 8 % Genes 13 %
Endometrial Cancer Focus Panel. By Fulgent Genetics Fulgent Genetics in United States. POLD1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 10 % Genes 13 %
Melanoma Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2 Specificity 12 % Genes 13 %
Thyroid Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC Specificity 15 % Genes 13 %
Nervous System / Brain Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000531708 complete gene list DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 4 % Genes 13 %
Breast Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Colorectal Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. MLH3, GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
PTEN Sequencing and Deletion/Duplication. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. PTEN Specificity 100 % Genes 13 %
Hereditary Colorectal Cancer Panel. By Blueprint Genetics in Finland. NTHL1, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, STK11, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
Autism Spectrum Disorders Panel. By Blueprint Genetics in Finland. CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1 , (...) View the complete list with 6 more genes Panel GTR000552821 complete gene list CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1, TSC1, TSC2, DHCR7, GAMT, MECP2, PTEN Specificity 4 % Genes 13 %
Hereditary Breast and Gynecological Cancer Panel. By Blueprint Genetics in Finland. DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN , (...) View the complete list with 7 more genes Panel GTR000552754 complete gene list DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Hereditary Melanoma and Skin Cancer Panel. By Blueprint Genetics in Finland. DDB2, XPC, XPA, ERCC5, WRN, POT1, ERCC4, BAP1, MITF, ERCC3, ERCC2, CDKN2A, CDK4, SUFU, PTCH1, TP53, PTEN, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Hereditary Breast Cancer High Risk Panel. By Blueprint Genetics in Finland. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
BreastTrue. By Pathway Genomics in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
Focus::Myeloid™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...) View the complete list with 34 more genes Panel GTR000522550 complete gene list CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 2 % Genes 13 %
Focus::MCL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...) View the complete list with 14 more genes Panel GTR000557733 complete gene list SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD, MYD88, TET2, SMARCA4, ABCC9, EZH2, NOTCH1, FAT4, KMT2D, GRIN2A, BTK, CDKN2A, ATM, TP53, PTEN Specificity 3 % Genes 13 %
Focus::CLL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...) View the complete list with 5 more genes Panel GTR000557736 complete gene list XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS, MAP2K1, KRAS, BRAF, TP53, PTEN Specificity 4 % Genes 13 %
Cowden syndrome. By Bioarray in Spain. PTEN Specificity 100 % Genes 13 %
Cowden syndrome. By Bioarray in Spain. PTEN Specificity 100 % Genes 13 %
PTEN Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. PTEN Specificity 100 % Genes 13 %
iGene Cancer Panel. By ApolloGen, Inc. in United States. NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 5 more genes Panel GTR000525919 complete gene list NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel. By Veritas Genetics Veritas Genetics in United States. ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000531756 complete gene list ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Circulo Ovarian. By Circulogene Theranostics in United States. PTEN Specificity 100 % Genes 13 %
Circulo Breast. By Circulogene Theranostics in United States. PTEN Specificity 100 % Genes 13 %
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. PTEN Specificity 100 % Genes 13 %
VATER-HYDROCEPHALUS SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. PTEN Specificity 100 % Genes 13 %
Cowden Syndrome , Deletions-Duplications (MLPA) PTEN Gene. By Reference Laboratory Genetics in Spain. PTEN Specificity 100 % Genes 13 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. MSH3, ENG, SMAD4, BMPR1A, FLCN, STK11, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 8 % Genes 13 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. PDGFB, SMARCB1, SMARCE1, LZTR1, SUFU, NF2, PTEN Specificity 15 % Genes 13 %
Uterine Cancer , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 17 % Genes 13 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes. By Reference Laboratory Genetics in Spain. BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...) View the complete list with 57 more genes Panel GTR000559901 complete gene list BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 13 %
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes. By Reference Laboratory Genetics in Spain. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN Specificity 13 % Genes 25 %
Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. NTHL1, SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC Specificity 15 % Genes 13 %
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. ERBB2, IDH1, EGFR, PIK3CA, LGI1, BRAF, PRKN, IDH2, RB1, TP53, PTEN, BRCA2 Specificity 17 % Genes 25 %
genTrue. By True Health Diagnostics in United States. POLE, POLD1, RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 6 more genes Panel GTR000556374 complete gene list POLE, POLD1, RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Phosphorus Colorectal Cancer Panel. By Phosphorus Diagnostics LLC in United States. AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
Phosphorus Melanoma Panel. By Phosphorus Diagnostics LLC in United States. POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2 Specificity 12 % Genes 13 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000560390 complete gene list XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12 , (...) View the complete list with 8 more genes Panel GTR000560397 complete gene list SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12, KMT2D, CDKN2A, AR, ZFHX3, RB1, TP53, PTEN, APC Specificity 8 % Genes 25 %
Cowden Syndrome: PTEN Gene Deletion/Duplication. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. PTEN Specificity 100 % Genes 13 %
Cowden Syndrome: PTEN Gene Sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. PTEN Specificity 100 % Genes 13 %
Gastrointestinal and Colorectal Cancer: gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 6 % Genes 13 %
High Risk Colorectal Cancer: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC Specificity 7 % Genes 13 %
Melanoma: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. WRN, BAP1, MGMT, KIT, CDKN2A, CDK4, NRAS, RB1, TP53, PTEN, BRCA1 Specificity 10 % Genes 13 %
Melanoma: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. WRN, BAP1, KIT, CDKN2A, CDK4, NRAS, BRAF, RB1, TP53, PTEN, BRCA2 Specificity 10 % Genes 13 %
PTEN Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. PTEN Specificity 100 % Genes 13 %
PTEN Deletion/Duplication Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. PTEN Specificity 100 % Genes 13 %
Hereditary High Risk Breast Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
Hereditary High Risk Breast Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
Hereditary Colorectal/Gastrointestinal Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. PMS1, ENG, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...) View the complete list with 2 more genes Panel GTR000553692 complete gene list PMS1, ENG, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 5 % Genes 13 %
NGS Overgrowth/Macrocephaly Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GLI3, RNF135, EZH2, NFIX, DNMT3A, UPF3B, MED12, CUL4B, PHF6, GPC3, CDKN1C, PTCH1, NSD1, PTEN Specificity 8 % Genes 13 %
Autism Spectrum Disorders 53-Gene Panel. By Center for Human Genetics, Inc in United States. CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2 , (...) View the complete list with 33 more genes Panel GTR000529181 complete gene list CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2, NLGN1, NOS1AP, NRXN2, PCDH10, PDZD4, PPP1R3F, RIMS3, SH3KBP1, WNK3, FRMPD4, RPL10, TSPAN7, NLGN3, NLGN4X, FOXP1, PTCHD1, DIAPH3, SHANK2, SHANK3, RAB39B, SYN1, CNTNAP2, ANKRD11, NRXN1, KCNMA1, GRIN2A, GRIN2B, CACNA1H, SYNGAP1, PCDH19, MEF2C, MECP2, PTEN Specificity 2 % Genes 13 %
Cowden Disease and PTEN Hamartoma Tumor Syndrome. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States. PTEN Specificity 100 % Genes 13 %
PTEN Gene Characterization. By Molecular Pathology Laboratory Ohio State University in United States. PTEN Specificity 100 % Genes 13 %
Comprehensive breast cancer panel testing (10 genes). By Molecular Genetics Laboratory North York General Hospital in Canada. BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 10 % Genes 13 %
Breast Cancer Predisposition, (BRCA1, BRCA2, TP53, CHEK2, PALB2, CDH1, PTEN, STK11, ATM), Mutation, Deletion/Duplication Analysis. By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
PTEN sequence analysis. By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States. PTEN Specificity 100 % Genes 13 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 86 more genes Panel GTR000552175 complete gene list DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, RAB3GAP2, GLI3, EZH2, NFIX, ATR, PCNT, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, UPF3B, LAMC3, MED12, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, PHF6, ATRX, OFD1, KIF1BP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, ASPM, MCPH1, LARGE1, POMT1, POMT2, VRK1, L1CAM, FGF8, FKRP, AHI1, TMEM216, POMGNT1, FKTN, PTCH1, NSD1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, ARX, HESX1, SOX2, MKS1, SLC9A6, MRPS16, RARS2, TUBA1A, MECP2, SLC25A19, SHH, CEP290, NPHP1, TMEM67, OTX2, CC2D2A, TUBB3, PTEN, UBE3A Specificity 2 % Genes 25 %
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, ADAR, C19orf12, ERCC6, TAF1, AP1S2, VPS13A , (...) View the complete list with 57 more genes Panel GTR000552212 complete gene list SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, ADAR, C19orf12, ERCC6, TAF1, AP1S2, VPS13A, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, WDR45, PRRT2, KCNQ2, SLC19A3, ATP1A3, ATP1A2, CHMP2B, FA2H, SGCE, GCH1, THAP1, TOR1A, CACNA1A, MCOLN1, TH, ATM, ATP13A2, SLC2A1, PLP1, NPC2, FOXG1, ARX, ARSA, PDHX, PNKD, APTX, PRKN, CYP27A1, FASTKD2, GCDH, L2HGDH, DLAT, SDHAF1, MPV17, QDPR, PTS, SUOX, MMADHC, TIMM8A, PINK1, SUCLA2, SPR, GAMT, SCP2, PANK2, FOXRED1, AFG3L2, HPRT1, PSEN1, AUH, ATP7B, PTEN Specificity 2 % Genes 13 %
Inherited Breast Cancer. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CHEK2, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3 , (...) View the complete list with 33 more genes Panel GTR000561050 complete gene list BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 2 % Genes 13 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...) View the complete list with 33 more genes Panel GTR000561051 complete gene list TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 2 % Genes 13 %
VisaSeq Breast and GYN Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000556509 complete gene list ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 13 %
VistaSeq Breast Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1 Specificity 6 % Genes 13 %
VistaSeq Colorectal Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...) View the complete list with 2 more genes Panel GTR000556517 complete gene list AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 5 % Genes 13 %
myRisk Hereditary Cancer. By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. in United States. POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH , (...) View the complete list with 8 more genes Panel GTR000530028 complete gene list POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
PTEN Hamartoma Tumor Syndrome. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. PTEN Specificity 100 % Genes 13 %
PTEN Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PTEN Specificity 100 % Genes 13 %
Hereditary Leukemia and Breast Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11 , (...) View the complete list with 11 more genes Panel GTR000551353 complete gene list DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11, BLM, ANKRD26, TP53, RUNX1, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Macrocephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...) View the complete list with 1 more genes Panel GTR000519523 complete gene list RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1, PTEN Specificity 5 % Genes 13 %
Comprehensive Hereditary Colorectal Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. GALNT12, BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...) View the complete list with 1 more genes Panel GTR000553166 complete gene list GALNT12, BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 5 % Genes 13 %
PTEN Hamartoma Tumor Syndrome. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand. PTEN Specificity 100 % Genes 13 %
PTEN. By Institute for Human Genetics University Clinic Freiburg in Germany. PTEN Specificity 100 % Genes 13 %
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 13 %
PTEN-Related Disorders, Del/Dup. By ARUP Laboratories, Molecular Genetics and Genomics in United States. PTEN Specificity 100 % Genes 13 %
PTEN-Related Disorders, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. PTEN Specificity 100 % Genes 13 %
PTEN-Related Disorders, Seq and Del/Dup. By ARUP Laboratories, Molecular Genetics and Genomics in United States. PTEN Specificity 100 % Genes 13 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN Specificity 8 % Genes 13 %
Breast Cancer High/Moderate Risk Panel. By GeneDx in United States. CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 13 % Genes 13 %
Breast Cancer High Risk Panel. By GeneDx in United States. CDH1, TP53, PTEN, BRCA2, BRCA1 Specificity 20 % Genes 13 %
OncoGeneDx Custom Panel. By GeneDx in United States. AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...) View the complete list with 9 more genes Panel GTR000520872 complete gene list AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Hereditary Cancer Panel - Breast9. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 12 % Genes 13 %
BRCAplus. By Ambry Genetics in United States. CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 13 % Genes 13 %
BreastNext. By Ambry Genetics in United States. NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1 Specificity 6 % Genes 13 %
ColoNext. By Ambry Genetics in United States. POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
MelanomaNext. By Ambry Genetics in United States. BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2 Specificity 13 % Genes 13 %
TumorNext-Lynch+ColoNext. By Ambry Genetics in United States. POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, NRAS, KRAS, BRAF, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 5 % Genes 13 %
GYNplus. By Ambry Genetics in United States. RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 8 % Genes 13 %
PTEN. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTEN Specificity 100 % Genes 13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence Analaysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PTEN Specificity 100 % Genes 13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Known Point Mutation Analaysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PTEN Specificity 100 % Genes 13 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence and Del/Dup Analaysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PTEN Specificity 100 % Genes 13 %
Hereditary High-Risk Breast Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
Hereditary Colorectal and Gastrointestinal Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. POLE, POLD1, KIT, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...) View the complete list with 3 more genes Panel GTR000530260 complete gene list POLE, POLD1, KIT, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 5 % Genes 13 %
Hereditary High-Risk Colorectal Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 9 % Genes 13 %
Breast cancer (NGS panel for 18 genes). By CGC Genetics in Portugal. ERCC4, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Macrocephaly (NGS panel for 16 genes). By CGC Genetics in Portugal. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN Specificity 13 % Genes 25 %
Proteus syndrome (sequence analysis of PTEN gene). By CGC Genetics in Portugal. PTEN Specificity 100 % Genes 13 %
Hereditary colon cancer (panel NGS of 21 genes). By CGC Genetics in Portugal. MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...) View the complete list with 1 more genes Panel GTR000556991 complete gene list MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 5 % Genes 13 %
Hereditary colon cancer (panel NGS of 21 genes). By CGC Genetics in Portugal. MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...) View the complete list with 1 more genes Panel GTR000557418 complete gene list MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 5 % Genes 13 %
PTEN Sequencing and Deletion/Duplication on Blood. By Medical Genomics Laboratory Department of Genetics UAB in United States. PTEN Specificity 100 % Genes 13 %
Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...) View the complete list with 11 more genes Panel GTR000509692 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RECQL, NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Breast Cancer - High Risk Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 17 % Genes 13 %
Breast Cancer - High / Moderate Risk Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 12 % Genes 13 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 5 more genes Panel GTR000558049 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRIP1, RAD50, BRCA1 Specificity 4 % Genes 13 %
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 6 % Genes 13 %
Melanoma Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POT1, BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2 Specificity 10 % Genes 13 %
Hydrocephalus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HDAC6, EML1, WDR81, MPDZ, CCDC88C, CRB2, CCND2, AKT3, PIK3R2, ZIC3, P4HB, DNAI1, FLVCR2, AP1S2, POMT1, L1CAM, PTEN Specificity 6 % Genes 13 %
Vascular malformations Comprehensive panel. By Connective Tissue Gene Tests in United States. ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN Specificity 6 % Genes 13 %
PTEN gene sequencing and deletion/duplicaiton analysis. By Molecular Diagnostics Laboratory University Health Network in Canada. PTEN Specificity 100 % Genes 13 %
Breast Cancer – Basic Diagnostics. By MGZ Medical Genetics Center in Germany. RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 10 % Genes 13 %
PTEN Hamartoma Tumor Syndrome (PHTS). By MGZ Medical Genetics Center in Germany. PTEN Specificity 100 % Genes 13 %
Pancreatic Cancer. By MGZ Medical Genetics Center in Germany. PMS1, CHEK2, CDKN2A, STK11, PALB2, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2 Specificity 10 % Genes 13 %
Myeloid Tumor Panel. By Centogene AG - the Rare Disease Company in Germany. CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...) View the complete list with 34 more genes Panel GTR000527964 complete gene list CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 2 % Genes 13 %
Breast ovarian cancer panel. By Centogene AG - the Rare Disease Company in Germany. RAD51, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MSH6 Specificity 8 % Genes 13 %
CentoCancer panel. By Centogene AG - the Rare Disease Company in Germany. NTHL1, POLE, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, BLM, FH , (...) View the complete list with 11 more genes Panel GTR000530687 complete gene list NTHL1, POLE, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, BLM, FH, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Familial melanoma Panel. By CeGaT GmbH in Germany. POT1, BAP1, MITF, CDKN2A, CDK4, MC1R, RB1, PTEN Specificity 13 % Genes 13 %
Colon Cancer Panel. By CeGaT GmbH in Germany. AXIN1, RINT1, POLE, POLD1, SMAD4, BMPR1A, CHEK2, FLCN, STK11, NBN, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
Macrocephaly Panel. By CeGaT GmbH in Germany. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN Specificity 12 % Genes 25 %
Breast and Ovarian Cancer Panel. By CeGaT GmbH in Germany. RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 10 % Genes 13 %
Single gene testing PTEN. By CeGaT GmbH in Germany. PTEN Specificity 100 % Genes 13 %
PTEN hamartoma syndrome. By GGA - Galil Genetic Analysis in Israel. PTEN Specificity 100 % Genes 13 %
Macrocephaly/Autism Syndrome. By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTEN Specificity 100 % Genes 13 %
Polyposis Syndromes. By Asper Biogene Asper Biogene LLC in Estonia. SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC Specificity 17 % Genes 13 %
Hamartoma Tumor/Cowden/Macrocephaly-autism syndromes (PTEN). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. PTEN Specificity 100 % Genes 13 %
Cowden Disease. By Praxis fuer Humangenetik Wien in Austria. PTEN Specificity 100 % Genes 13 %
Bannayan-Riley-Ruvalcaba syndrome. By Praxis fuer Humangenetik Wien in Austria. PTEN Specificity 100 % Genes 13 %
FAMILIAL MULTIPLE MENINGIOMA. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN Specificity 17 % Genes 13 %
Bannayan-Riley-Ruvalcaba syndrome. By MedGene in Slovakia. PTEN Specificity 100 % Genes 13 %
Cowden Disease. By MedGene in Slovakia. PTEN Specificity 100 % Genes 13 %
Invitae Thyroid Cancer Panel. By Invitae in United States. DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC Specificity 15 % Genes 13 %
Invitae Nervous System/Brain Cancer Panel. By Invitae in United States. DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000528930 complete gene list DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 4 % Genes 13 %
Invitae Breast Cancer STAT Panel. By Invitae in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
Invitae Colorectal Cancer Panel. By Invitae in United States. AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 13 %
COLON CANCER. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MSH3, PMS1, ENG, SMAD4, BMPR1A, FLCN, STK11, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 7 % Genes 13 %
Autism Spectrum Disorders: Tier 2 Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...) View the complete list with 42 more genes Panel GTR000512587 complete gene list NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, ALDH5A1, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1 Specificity 2 % Genes 13 %
Macrocephaly: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, GPC3, PTCH1, NSD1, PTEN Specificity 10 % Genes 13 %
High Risk Breast Cancer: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
High Risk Colorectal Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC Specificity 7 % Genes 13 %
Dystonia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SERAC1, PDGFRB, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, VPS37A, ADAR, C19orf12, ERCC6 , (...) View the complete list with 62 more genes Panel GTR000523298 complete gene list SERAC1, PDGFRB, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, VPS37A, ADAR, C19orf12, ERCC6, TAF1, AP1S2, PNPT1, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, WDR45, ATP13A2, PRRT2, KCNQ2, SLC19A3, ATP1A3, ATP1A2, COL6A3, CHMP2B, FA2H, SGCE, GCH1, THAP1, TOR1A, CACNA1A, PLA2G6, MCOLN1, TH, ATM, SLC2A1, PLP1, NPC2, FOXG1, ARX, ARSA, PDHX, PNKD, APTX, PRKN, CYP27A1, FASTKD2, GCDH, L2HGDH, DLAT, SDHAF1, MPV17, QDPR, PTS, SUOX, MMADHC, TIMM8A, PINK1, SUCLA2, SPR, GAMT, SCP2, PANK2, FOXRED1, AFG3L2, HPRT1, PSEN1, AUH, ATP7B, PTEN Specificity 2 % Genes 13 %
High Risk Colorectal Cancer: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC Specificity 7 % Genes 13 %
Colon Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EXO1, GALNT12, BUB1B, AXIN2, PMS1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...) View the complete list with 1 more genes Panel GTR000507957 complete gene list EXO1, GALNT12, BUB1B, AXIN2, PMS1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 5 % Genes 13 %
Melanoma NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. WRN, TERT, MITF, ERCC3, CDKN2A, CDK4, TYR, MC1R, RB1, TP53, PTEN, BRCA2, BRCA1 Specificity 8 % Genes 13 %
Autism NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...) View the complete list with 80 more genes Panel GTR000509342 complete gene list AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 13 %
Colorectal Cancer Focus Panel. By Fulgent Genetics Fulgent Genetics in United States. AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 7 % Genes 13 %
Endometrial Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. POLD1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 10 % Genes 13 %
GIvantage Hereditary Colon Cancer Panel. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. SMAD4, BMPR1A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 8 % Genes 13 %
Hereditary Cancer High Risk Panel. By Blueprint Genetics in Finland. POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1 , (...) View the complete list with 8 more genes Panel GTR000561520 complete gene list POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Vascular Malformations Panel. By Blueprint Genetics in Finland. ELMO2, PIK3CA, TEK, STAMBP, GLMN, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN Specificity 15 % Genes 25 %
COLOTRUE™. By Pathway Genomics in United States. MDM2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 7 % Genes 13 %
Focus::Myeloid™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR , (...) View the complete list with 30 more genes Panel GTR000557727 complete gene list CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 2 % Genes 13 %
Focus::HERSite® NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 7 % Genes 13 %
Focus::DLBCL&FL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...) View the complete list with 24 more genes Panel GTR000557917 complete gene list FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2, TNFAIP3, CARD11, PRKDC, CIITA, PIK3CD, FAS, IKZF1, MYD88, TET2, EP300, ARID1A, EZH2, NOTCH1, MTOR, KMT2D, BTK, CDKN2A, ATM, KRAS, CREBBP, BRAF, STAT3, TP53, PTEN Specificity 3 % Genes 13 %
Focus::Lymphoma™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...) View the complete list with 29 more genes Panel GTR000557919 complete gene list FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1, CD79B, CD79A, B2M, PLCG2, TNFAIP3, CARD11, NOTCH2, PRKDC, CIITA, PIK3CD, FAS, IKZF1, MYD88, TET2, EP300, ARID1A, EZH2, NOTCH1, MTOR, KMT2D, BTK, CDKN2A, ATM, KRAS, CREBBP, BRAF, STAT3, TP53, PTEN Specificity 3 % Genes 13 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. TMCO1, DIS3L2, RNF135, EZH2, NFIX, DNMT3A, SETD2, GPC3, CDKN1C, PTCH1, NSD1, PLOD1, PTEN Specificity 8 % Genes 13 %
Exome. By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil. IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...) View the complete list with 46 more genes Panel GTR000530118 complete gene list IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3, ATXN8OS, TBP, ATXN2, SERPINA1, CDH1, TSC1, ATXN1, PTPN11, NRAS, DMPK, MAP2K1, KRAS, IDS, DMD, CHD7, CDKL5, BRAF, CFTR, FGFR3, COL5A2, COL5A1, MEN1, FXN, ABCD1, FBN1, MECP2, AFG3L2, RET, TGFB1, PRKCG, COL3A1, COL1A2, COL1A1, COL2A1, ALPL, TP53, PTEN, MUTYH, APC, UBE3A, TTR, HFE, HTT, FMR1, BRCA2, BRCA1 Specificity 2 % Genes 13 %
Breast Cancer Panel. By ApolloGen, Inc. in United States. RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, MSH2, BRCA2, BRCA1 Specificity 7 % Genes 13 %
Circulo Colorectal. By Circulogene Theranostics in United States. PTEN Specificity 100 % Genes 13 %
Circulo Lung. By Circulogene Theranostics in United States. PTEN Specificity 100 % Genes 13 %
Hereditary Cancer. By Color Genomics, Inc. Color Genomics, Inc. in United States. POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN , (...) View the complete list with 9 more genes Panel GTR000558503 complete gene list POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 13 %
Otogenetics Hereditary Cancers. By Otogenetics in United States. PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...) View the complete list with 19 more genes Panel GTR000552245 complete gene list PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, HRAS, FANCC, MEN1, RET, ELAC2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 13 %
COWDEN DISEASE. By Laboratorio de Genetica Clinica SL in Spain. BMPR1A, PTEN Specificity 50 % Genes 13 %
Hereditary Thyroid Cancer , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC Specificity 15 % Genes 13 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes. By Reference Laboratory Genetics in Spain. BAP1, TERT, MITF, CDKN2A, CDK4, MC1R, RB1, TP53, PTEN, BRCA2 Specificity 10 % Genes 13 %
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN Specificity 17 % Genes 13 %
Phosphorus Breast Cancer Panel. By Phosphorus Diagnostics LLC in United States. NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 7 % Genes 13 %
Phosphorus Ovarian/Uterine Cancer Panel. By Phosphorus Diagnostics LLC in United States. DICER1, SMARCA4, RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 7 % Genes 13 %
Phosphorus Thyroid Cancer Panel. By Phosphorus Diagnostics LLC in United States. DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC Specificity 15 % Genes 13 %
Phosphorus Common/High Risk Cancers Panel. By Phosphorus Diagnostics LLC in United States. POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM , (...) View the complete list with 12 more genes Panel GTR000558460 complete gene list POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 13 %
High Risk Breast Cancer: Gene Sequencing and Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1 Specificity 15 % Genes 13 %
High Risk Colorectal Cancer: Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC Specificity 7 % Genes 13 %
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...) View the complete list with 67 more genes Panel GTR000522580 complete gene list PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26, KLF1, GATA1, WDR35, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIF23, FAT4, KIAA0586, LZTR1, PIEZO1, FOXC2, MID1, PEX6, LBR, PIGA, KMT2D, ASAH1, CHRND, CHRNA1, CLCNKB, SUMF1, SLC17A5, PEX1, G6PD, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, RPS19, PTPN11, NRAS, NPC1, MAP2K1, LIPA, KRAS, IDUA, HRAS, GLA, DHCR7, BRAF, GBA, FGFR3, PMM2, GBE1, GALNS, GUSB, CTSA, ALG1, ALG9, HADHB, RPL35A, SMPD1, RAF1, HADHA, GLB1, GNPTAB, COL2A1 Specificity 2 % Genes 13 %
Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, KCNN4, ATP11C, GYPC, SLC4A1, ABCG8, ABCG5, PGK1 , (...) View the complete list with 18 more genes Panel GTR000509191 complete gene list LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, KCNN4, ATP11C, GYPC, SLC4A1, ABCG8, ABCG5, PGK1, SEC23B, CDAN1, PKLR, KLF1, GATA1, KIF23, PIEZO1, COL4A1, G6PD, SLC2A1, PFKM, HK1, NT5C3A, AK1, GPI, GPX1, ALAS2, ALDOA Specificity 3 % Genes 13 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. LPIN2, C15orf41, SEC23B, CDAN1, KLF1, GATA1, KIF23, ALAS2 Specificity 13 % Genes 13 %
SEC23B Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SEC23B Specificity 100 % Genes 13 %
SEC23B Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SEC23B Specificity 100 % Genes 13 %
SEC23B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SEC23B Specificity 100 % Genes 13 %
Anemia dyserythropoietic type 2 (sequence analysis of SEC23B gene). By CGC Genetics in Portugal. SEC23B Specificity 100 % Genes 13 %
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene. By PreventionGenetics PreventionGenetics in United States. SEC23B Specificity 100 % Genes 13 %
Erythrocytes, Anemia Panel. By CeGaT GmbH in Germany. EGLN1, EPAS1, EPOR, HBD, LPIN2, C15orf41, EPB42, ANK1, SPTA1, SPTB, RPS7, SH2B3, SEC23B, CDAN1, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26 , (...) View the complete list with 13 more genes Panel GTR000528900 complete gene list EGLN1, EPAS1, EPOR, HBD, LPIN2, C15orf41, EPB42, ANK1, SPTA1, SPTB, RPS7, SH2B3, SEC23B, CDAN1, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26, KLF1, KIF23, HBA2, G6PD, HBA1, RPS19, GIF, CUBN, RPL35A, COX4I2, AMN, HBB, HFE Specificity 4 % Genes 13 %
Invitae Congenital Disorders of Glycosylation Panel. By Invitae in United States. COG2, GMPPA, NGLY1, SSR4, TRIP11, MAN1B1, PGM3, G6PC3, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, GMPPB, CHST14, MAGT1, SEC23B, ALG13, SLC35A2 , (...) View the complete list with 29 more genes Panel GTR000551753 complete gene list COG2, GMPPA, NGLY1, SSR4, TRIP11, MAN1B1, PGM3, G6PC3, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, GMPPB, CHST14, MAGT1, SEC23B, ALG13, SLC35A2, DPM2, GFPT1, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, ALG12, ALG2, ALG8, ALG1, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, PGM1, DPM3, DHDDS, SRD5A3, ATP6V0A2 Specificity 3 % Genes 13 %
Congenital disorder of multiple glycosylation (CDG). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COG5, COG6, COG4, SEC23B, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG2, ALG8, ALG9, COG7 , (...) View the complete list with 11 more genes Panel GTR000531427 complete gene list COG5, COG6, COG4, SEC23B, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG2, ALG8, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, DPM3, DHDDS, GNE, SRD5A3, ATP6V0A2 Specificity 4 % Genes 13 %
Dyserythropoietic anemia, congenital. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. C15orf41, SEC23B, CDAN1, KLF1 Specificity 25 % Genes 13 %
Congenital Disorders of Glycosylation NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RPN2, B3GLCT, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1 , (...) View the complete list with 18 more genes Panel GTR000509368 complete gene list RPN2, B3GLCT, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG2, ALG8, ALG1, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, DPM3, DHDDS, DDOST, GNE, SRD5A3, ATP6V0A2 Specificity 3 % Genes 13 %
SEC23B. By Fulgent Genetics Fulgent Genetics in United States. SEC23B Specificity 100 % Genes 13 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12, F10, TRNT1, RNF168, CLPB, EGLN1, DDX41, REN, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, SAMD9L, SAMD9, DNAJC21, EPAS1, PGM3, EPOR, ACD, F7, VKORC1, JAGN1, PROC, WIPF1, FADD, PROS1, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, EPB41, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK, STXBP2, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, GP1BB, SLC4A1, IFNGR2, CSF3R, ETV6, IKZF1, JAK2, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2, NBEAL2, P2RY12, FGG, TBXA2R, RAB27A, MYO5A, GGCX, FGB, FGA, GP1BA, SLC46A1, USB1, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, ABCG8, ABCG5, FANCE, FANCF, FANCG, FANCA, ADAMTS13, F8, F9, NOP10, NHP2, WRAP53, CTC1, THBD, VWF, F11, SH2D1A, SFTPB, SFTPC, ABCA3, CSF2RA, PARN, TERT, TERC, LYST, BLOC1S6, CTSC, ATR, DKC1, FANCB, MAGT1, SEC23B, CDAN1, PKLR, RPS24, RPL5, RPL11, RPS10, RPS26, KLF1, GATA1, PIEZO1, MYH9, SLC19A2, ACTB, VPS13B, ATRX, FLNA, NF1, WAS, RTEL1, MPL, HBA2, G6PD, HBA1, RAD51C, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, CDKN2A, PALB2, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, RPS19, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, PDHX, ANKRD26, SLC25A38, CYB5R3, CUBN, NT5C3A, AK2, TCN2, ABCB7, PDHA1, PUS1, AP3B1, HAX1, CYCS, RPL35A, GPI, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, ALAS2, DTNBP1, CLCN7, GPR143, SLC37A4, TYR, MTR, SLC45A2, AMN, OCA2, TYRP1, HBB, PC, YARS2, TP53, RUNX1, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, HFE, F5, F2, BRCA2, BRCA1 Specificity 1 % Genes 13 %
Congenital Disorders of Glycosylation Panel. By Blueprint Genetics in Finland. GMPPA, STT3A, STT3B, NGLY1, SSR4, MAN1B1, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK , (...) View the complete list with 27 more genes Panel GTR000552735 complete gene list GMPPA, STT3A, STT3B, NGLY1, SSR4, MAN1B1, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG2, ALG8, ALG1, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, PGM1, DPM3, DHDDS, DDOST, GNE, SRD5A3, ATP6V0A2 Specificity 3 % Genes 13 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 13 %
Anemia Panel. By Blueprint Genetics in Finland. RPS29, TMPRSS6, DHFR, TF, REN, DNAJC21, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, RPL15, SLC4A1, RPS7, ERCC4, XRCC2 , (...) View the complete list with 58 more genes Panel GTR000552629 complete gene list RPS29, TMPRSS6, DHFR, TF, REN, DNAJC21, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, RPL15, SLC4A1, RPS7, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, ADAMTS13, THBD, ATR, FANCB, SEC23B, CDAN1, PKLR, RPS24, RPL5, RPL11, RPS10, RPS26, KLF1, GATA1, PIEZO1, SLC19A2, ATRX, HBA2, G6PD, HBA1, RAD51C, SBDS, BRIP1, PALB2, NBN, ATM, RPS19, BLM, FANCC, PDHX, SLC25A38, CYB5R3, CUBN, NT5C3A, TCN2, ABCB7, PDHA1, PUS1, RPL35A, GPI, ALAS2, CLCN7, MTR, AMN, HBB, PC, YARS2, HFE, BRCA2 Specificity 2 % Genes 13 %
Congenital Dyserytrhopoietic Anemia Type II, Sequencing SEC23B Gene. By Reference Laboratory Genetics in Spain. SEC23B Specificity 100 % Genes 13 %
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. LPIN2, C15orf41, SEC23B, CDAN1, KLF1, GATA1, KIF23 Specificity 15 % Genes 13 %
Hemolytic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, GYPC, SLC4A1, ABCG8, ABCG5, PGK1, SEC23B, CDAN1 , (...) View the complete list with 14 more genes Panel GTR000528591 complete gene list LPIN2, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, GYPC, SLC4A1, ABCG8, ABCG5, PGK1, SEC23B, CDAN1, PKLR, KLF1, GATA1, KIF23, PIEZO1, G6PD, SLC2A1, PFKM, HK1, NT5C3A, AK1, GPI, GPX1, ALDOA Specificity 3 % Genes 13 %
Hyperferritinemia Panel. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. TF, STEAP3, FTH1, B2M, HJV, HAMP, TFR2, SLC40A1, CP, FTL, SEC23B, CDAN1, SLC25A38, ALAS2, HFE Specificity 7 % Genes 13 %
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. C15orf41, SEC23B, CDAN1, KLF1, GATA1 Specificity 20 % Genes 13 %
Anemia, dyserythropoietic congenital type II. By Centogene AG - the Rare Disease Company in Germany. SEC23B Specificity 100 % Genes 13 %
NGS Panel for Congenital Dyserythropoietic Anemia. By BLOODGENETICS BLOODGENETICS in Spain. C15orf41, SEC23B, CDAN1, KLF1, GATA1, KIF23 Specificity 17 % Genes 13 %
Congenital Dyserythropoietic Anemia. By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States. SEC23B, CDAN1, KLF1 Specificity 34 % Genes 13 %
Congenital Dyserythropoietic Anemia Type II: SEC23B Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SEC23B Specificity 100 % Genes 13 %
Congenital Disorders of Glycosylation: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...) View the complete list with 46 more genes Panel GTR000512591 complete gene list PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6, CHST14, SEC23B, CHSY1, PIGV, PIGA, ST3GAL3, PIGO, ALG13, ST3GAL5, LARGE1, GFPT1, POMT1, POMT2, FKRP, POMGNT1, FKTN, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG8, ALG1, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, PGM1, DPM3, DHDDS, DDOST, GNE, SRD5A3, ATP6V0A2, B4GALT7 Specificity 2 % Genes 13 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...) View the complete list with 45 more genes Panel GTR000558834 complete gene list PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6, CHST14, SEC23B, CHSY1, PIGV, PIGA, ST3GAL3, PIGO, ALG13, ST3GAL5, LARGE1, GFPT1, POMT1, POMT2, FKRP, POMGNT1, FKTN, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG8, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, PGM1, DPM3, DHDDS, DDOST, GNE, SRD5A3, ATP6V0A2, B4GALT7 Specificity 2 % Genes 13 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies. By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States. STOM, HMOX1, CD59, HBD, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, GYPC, SLC4A1, FANCG, FANCA , (...) View the complete list with 20 more genes Panel GTR000553666 complete gene list STOM, HMOX1, CD59, HBD, C15orf41, GSS, TPI1, GSR, GCLC, RHAG, EPB42, XK, ANK1, SPTA1, SPTB, EPB41, GYPC, SLC4A1, FANCG, FANCA, PGK1, SEC23B, CDAN1, PKLR, KLF1, GATA1, KIF23, PIEZO1, UGT1A1, G6PD, SLC2A1, RPS19, FANCC, PFKM, HK1, NT5C3A, AK1, GPI, HBB, ALDOA Specificity 3 % Genes 13 %
Congenital dyserythropoietic anemia type 2. By Bioarray in Spain. SEC23B Specificity 100 % Genes 13 %
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 2. By Laboratorio de Genetica Clinica SL in Spain. SEC23B Specificity 100 % Genes 13 %
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics in Spain. COG5, COG6, COG4, SEC23B, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, B4GALT1, ALG12, ALG2, ALG8, ALG9, COG7, DPM1 , (...) View the complete list with 10 more genes Panel GTR000559651 complete gene list COG5, COG6, COG4, SEC23B, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, B4GALT1, ALG12, ALG2, ALG8, ALG9, COG7, DPM1, MPDU1, TUSC3, COG8, COG1, RFT1, DPM3, DHDDS, GNE, SRD5A3, ATP6V0A2 Specificity 4 % Genes 13 %
Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics in Spain. SEC23B, CDAN1, KLF1, GATA1 Specificity 25 % Genes 13 %
PIK3CA. By Institute for Human Genetics University Clinic Freiburg in Germany. PIK3CA Specificity 100 % Genes 13 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes). By CGC Genetics in Portugal. NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5 Specificity 13 % Genes 13 %
CLOVE syndrome. By Centogene AG - the Rare Disease Company in Germany. PIK3CA Specificity 100 % Genes 13 %
Neuronal Migration Disorders Panel. By CeGaT GmbH in Germany. DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...) View the complete list with 30 more genes Panel GTR000522375 complete gene list DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, TUBB3 Specificity 2 % Genes 13 %
RASopathies Panel. By CeGaT GmbH in Germany. CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522382 complete gene list CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 5 % Genes 13 %
Neuronal Migration Disorders Panel. By CeGaT GmbH in Germany. DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...) View the complete list with 30 more genes Panel GTR000522412 complete gene list DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, TUBB3 Specificity 2 % Genes 13 %
RASopathies Panel. By CeGaT GmbH in Germany. CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522477 complete gene list CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 5 % Genes 13 %
PIK3CA-Related Segmental Overgrowth (Cowden Syndrome 5): PIK3CA gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PIK3CA Specificity 100 % Genes 13 %
Neuronal Migration Disorder Panel. By Blueprint Genetics in Finland. YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...) View the complete list with 38 more genes Panel GTR000552778 complete gene list YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A, NSDHL, FAT4, LAMC3, MED12, ACTG1, ACTB, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, RAB3GAP1, NDE1, EMX2, DCX, ARFGEF2, COL4A1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, LAMA2, ISPD, POMT1, DYNC1H1, L1CAM, PHGDH, FKTN, WDR62, MEF2C, ARX, TUBA1A, FH, ATP6V0A2, TUBB3 Specificity 2 % Genes 13 %
Lymphatic Malformations and Related Disorders Panel. By Blueprint Genetics in Finland. PIK3CA, FLT4, KIF11, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, GATA2, GJC2 Specificity 10 % Genes 13 %
Circulo Colorectal. By Circulogene Theranostics in United States. PIK3CA Specificity 100 % Genes 13 %
Circulo Lung. By Circulogene Theranostics in United States. PIK3CA Specificity 100 % Genes 13 %
Circulo Melanoma. By Circulogene Theranostics in United States. PIK3CA Specificity 100 % Genes 13 %
Circulo Gastric. By Circulogene Theranostics in United States. PIK3CA Specificity 100 % Genes 13 %
Cowden Syndrome, Sequencing PIK3CA Gene. By Reference Laboratory Genetics in Spain. PIK3CA Specificity 100 % Genes 13 %
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome , Sequencing PIK3CA Gene. By Reference Laboratory Genetics in Spain. PIK3CA Specificity 100 % Genes 13 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes. By Reference Laboratory Genetics in Spain. LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...) View the complete list with 18 more genes Panel GTR000559932 complete gene list LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, NDE1, DCX, ARFGEF2, COL4A1, ASPM, LARGE1, LAMA2, POMT1, POMT2, DYNC1H1, FKRP, POMGNT1, FKTN, WDR62, FOXG1, ARX, TUBA1A, TUBB3 Specificity 3 % Genes 13 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. WNK2, ADGRB3, SSTR1, TRRAP, LRP1B, LPAR2, GPR78, ATP4A, CCNE1, TRIO, DCC, MYC, ERBB2, PRKDC, FBXW7, PIK3CA, SPEG, NOTCH1, CTNNB1, S1PR2 , (...) View the complete list with 9 more genes Panel GTR000560394 complete gene list WNK2, ADGRB3, SSTR1, TRRAP, LRP1B, LPAR2, GPR78, ATP4A, CCNE1, TRIO, DCC, MYC, ERBB2, PRKDC, FBXW7, PIK3CA, SPEG, NOTCH1, CTNNB1, S1PR2, LRRK2, MET, STK11, CDH1, FGFR2, RET, TP53, APC, BRCA2 Specificity 4 % Genes 13 %
PIK3CA sequence analysis (Somatic). By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States. PIK3CA Specificity 100 % Genes 13 %
PIK3CA Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PIK3CA Specificity 100 % Genes 13 %
PIK3CA. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PIK3CA Specificity 100 % Genes 13 %
Cowden syndrome type 5 (sequence analysis of PIK3CA gene). By CGC Genetics in Portugal. PIK3CA Specificity 100 % Genes 13 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes). By CGC Genetics in Portugal. NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5 Specificity 13 % Genes 13 %
Cowden syndrome type 5 (sequence analysis of PIK3CA gene). By CGC Genetics in Portugal. PIK3CA Specificity 100 % Genes 13 %
Cowden and Cowden-like Syndromes via the PIK3CA Gene. By PreventionGenetics PreventionGenetics in United States. PIK3CA Specificity 100 % Genes 13 %
Colorectal adenocarcinoma, somatic mutation sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. PIK3CA, NRAS, KRAS, BRAF Specificity 25 % Genes 13 %
RASopathies Panel. By CeGaT GmbH in Germany. CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522479 complete gene list CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 5 % Genes 13 %
CLOVE syndrome, somatic (PIK3CA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PIK3CA Specificity 100 % Genes 13 %
PIK3CA. By Fulgent Genetics Fulgent Genetics in United States. PIK3CA Specificity 100 % Genes 13 %
PIK3CA Mutation by Sequencing. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. PIK3CA Specificity 100 % Genes 13 %
Liquid::Lung-cfDNA™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. ROS1, ERBB2, EGFR, PIK3CA, MET, ALK, NRAS, MAP2K1, KRAS, BRAF, TP53 Specificity 10 % Genes 13 %
PIK3CA-Related Overgrowth Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. PIK3CA Specificity 100 % Genes 13 %
Nevus Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3 Specificity 15 % Genes 13 %
PIK3CA Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. PIK3CA Specificity 100 % Genes 13 %
Circulo Breast. By Circulogene Theranostics in United States. PIK3CA Specificity 100 % Genes 13 %
Circulo Ovarian. By Circulogene Theranostics in United States. PIK3CA Specificity 100 % Genes 13 %

Alternate names

Cowden Syndrome 1; Cws1 Is also known as cs;cd, multiple hamartoma syndrome;mham;cowden disease; multiple hamartoma syndrome.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PEELING SKIN SYNDROME 5; PSS5 LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5 AROMATASE DEFICIENCY CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30