Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a

Description

Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.

Genes related to Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a

NF2
LZTR1
COQ6
SMARCB1

Clinical Features

Phenotypes and symptoms related to Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a

Meningioma
Lisch nodules
Bilateral vestibular Schwannoma
Paraspinal neurofibromas
Few cafe-au-lait spots
Palmar neurofibromas

Incidence and onset information

— Not enough data available about incidence and published cases.

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Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 25 %
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 25 %
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 2 % Genes 25 %
Neurofibromatosis Type 2 (NF2) Duplication/Deletion Test. By Athena Diagnostics Inc in United States. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis Type 2 (NF2) Evaluation. By Athena Diagnostics Inc in United States. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis Type 2 DNA Sequencing Test. By Athena Diagnostics Inc in United States. NF2 Specificity 100 % Genes 25 %
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, KAT6B, LZTR1, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522606 complete gene list A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, KAT6B, LZTR1, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 9 % Genes 50 %
Neurofibromatosis Syndrome 2. By Center for Human Genetics, Inc in United States. NF2 Specificity 100 % Genes 25 %
VistaSeq Brain/CNS/PNS Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. SMARCB1, NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, MEN1, RB1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 12 % Genes 50 %
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 50 %
NEUROFIBROMATOSIS, TYPE II; NF2. By Human Genetics Ruhr University in Germany. NF2 Specificity 100 % Genes 25 %
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 5 % Genes 50 %
Hereditary Cancer Panel - Neuro17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 25 %
Neurofibromatosis Type 2. By Genetic Pathology SA Pathology in Australia. NF2 Specificity 100 % Genes 25 %
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 8 % Genes 50 %
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 4 % 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 3 % Genes 50 %
NF2 gene sequence and deletion/duplication. By Ambry Genetics in United States. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type 2. By Human Genetics University Hospital Bern in Switzerland. NF2 Specificity 100 % Genes 25 %
NF2. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NF2 Specificity 100 % Genes 25 %
NF2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NF2 Specificity 100 % Genes 25 %
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 2 % Genes 50 %
Hereditary Brain Tumor Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMARCB1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 12 % Genes 50 %
Neurofibromatosis type 2 (deletion/duplication analysis of NF2 gene). By CGC Genetics in Portugal. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type 2 (sequence analysis of NF2 gene). By CGC Genetics in Portugal. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes). By CGC Genetics in Portugal. SMARCB1, NF1, NF2 Specificity 67 % Genes 50 %
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 3 % Genes 25 %
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 3 % Genes 50 %
Neurofibromatosis Type 2 (NF2) Comprehensive Testing from Biopsy Specimen. By Medical Genomics Laboratory Department of Genetics UAB in United States. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis Type 2 (NF2) Next Genetration Sequencing and Deletion/Duplication Testing. By Medical Genomics Laboratory Department of Genetics UAB in United States. NF2 Specificity 100 % Genes 25 %
Schwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1). By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1, LZTR1, NF2 Specificity 100 % Genes 75 %
Peripheral Nerve Sheath Tumor NGS panel. By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS Specificity 50 % Genes 75 %
Schwannomatosis/ Multiple Schwannomas NGS Panel. By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1, LZTR1, NF2 Specificity 100 % Genes 75 %
Meningiomatosis/ Multiple Meningioma NGS Panel. By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1, SMARCE1, SUFU, NF2 Specificity 50 % Genes 50 %
Neurofibromatosis Type 2 via NF2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NF2 Specificity 100 % Genes 25 %
Noonan spectrum disorder Comprehensive panel. By Connective Tissue Gene Tests in United States. PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...) View the complete list with 5 more genes Panel GTR000559192 complete gene list PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 8 % Genes 50 %
Noonan spectrum disorder Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...) View the complete list with 5 more genes Panel GTR000559193 complete gene list PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 8 % Genes 50 %
Neurofibromatosis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. SPRED1, NF1, NF2, MLH1, MSH6, MSH2 Specificity 17 % Genes 25 %
Neurofibromatosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. SPRED1, NF1, NF2, MLH1, MSH6, MSH2 Specificity 17 % Genes 25 %
Noonan spectrum disorder NGS panel. By Connective Tissue Gene Tests in United States. PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...) View the complete list with 5 more genes Panel GTR000559233 complete gene list PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 8 % Genes 50 %
Neurofibromatosis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. SPRED1, NF1, NF2, MLH1, MSH6, MSH2 Specificity 17 % Genes 25 %
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 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 2 % Genes 50 %
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 3 % Genes 50 %
Neurofibromatosis type II. By Centogene AG - the Rare Disease Company in Germany. NF2 Specificity 100 % Genes 25 %
Meningioma, NF2-related, somatic. By Centogene AG - the Rare Disease Company in Germany. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type II. By Centogene AG - the Rare Disease Company in Germany. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type 2. By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom. NF2 Specificity 100 % 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 3 % Genes 25 %
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 10 % Genes 75 %
Genetic disorders with abnormal pigmentation Panel. By CeGaT GmbH in Germany. ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10 , (...) View the complete list with 12 more genes Panel GTR000522378 complete gene list ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10, SNAI2, EDNRB, PAX3, EDN3, NF1, STK11, NF2, PTPN11, BLM, ABCB6, KRT5, HFE Specificity 4 % Genes 25 %
Single gene testing NF2. By CeGaT GmbH in Germany. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type II, NF2. By GGA - Galil Genetic Analysis in Israel. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis 2 (NF2). By MVZ Dortmund Dr. Eberhard & Partner in Germany. NF2 Specificity 100 % Genes 25 %
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 3 % Genes 50 %
Deafness, GJB2 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis 2, NF2 Sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. NF2 Specificity 100 % Genes 25 %
Neurocutaneous Panel. By Molecular Vision Laboratory in United States. KIT, SPRED1, NF1, NF2, TSC1, TSC2, VHL Specificity 15 % Genes 25 %
Neurofibromatosis II. By Praxis fuer Humangenetik Wien in Austria. NF2 Specificity 100 % Genes 25 %
Schwannomatosis. By Praxis fuer Humangenetik Wien in Austria. NF2 Specificity 100 % Genes 25 %
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. SMARCB1, LZTR1, NF2 Specificity 100 % Genes 75 %
FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. SMARCB1, LZTR1, NF2 Specificity 100 % Genes 75 %
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 25 %
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 25 %
Neurofibromatosis II. By MedGene in Slovakia. NF2 Specificity 100 % Genes 25 %
Schwannomatosis. By MedGene in Slovakia. NF2 Specificity 100 % Genes 25 %
Invitae Neurofibromatosis Type 2 Test. By Invitae in United States. NF2 Specificity 100 % Genes 25 %
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 3 % Genes 50 %
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 8 % Genes 50 %
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 9 % Genes 50 %
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 5 % Genes 50 %
Neurofibromatosis type II: NF2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis type II: NF2 deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF2 Specificity 100 % Genes 25 %
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 4 % Genes 50 %
Brain, CNS, and PNS Cancer: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 7 % Genes 25 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL Specificity 7 % Genes 25 %
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 4 % 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 2 % Genes 50 %
Neurofibromatosis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SPRED1, NF1, NF2 Specificity 34 % Genes 25 %
NF2. By Fulgent Genetics Fulgent Genetics in United States. NF2 Specificity 100 % Genes 25 %
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 8 % Genes 50 %
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 2 % Genes 50 %
N-FIBRON. By PentaCoreLab in Hungary. NF1, NF2 Specificity 50 % Genes 25 %
Neurofibromatosis Panel. By Blueprint Genetics in Finland. KITLG, KIT, SMARCB1, SPRED1, NF1, NF2, PTPN11, RAF1 Specificity 25 % 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 5 % Genes 75 %
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 75 %
Cataract Panel. By Blueprint Genetics in Finland. ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3 , (...) View the complete list with 49 more genes Panel GTR000552775 complete gene list ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, ADAMTSL4, ERCC5, COL18A1, WRN, ERCC8, CRYBA4, VSX2, FTL, GJA1, CTDP1, ERCC6, FOXE3, MAF, TFAP2A, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, NF2, FZD4, CYP27A1, GALK1, GALE, GALT, BCOR, GJA3, FYCO1, TMEM70, ALDH18A1, AGK, OPA3, CRYAB, NHS, NDP, OCRL, WFS1, ABCB6, PITX3, PAX6, COL2A1, EYA1, RECQL4 Specificity 2 % Genes 25 %
Neurofibromatosis type 2. By Bioarray in Spain. NF2 Specificity 100 % Genes 25 %
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 2 % Genes 50 %
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 5 % Genes 50 %
Neurofibromatosis NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SPRED1, NF1, NF2 Specificity 34 % Genes 25 %
NF2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NF2 Specificity 100 % Genes 25 %
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 1 % Genes 25 %
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 1 % Genes 25 %
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 1 % Genes 50 %
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 1 % 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 1 % Genes 50 %
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 2 % Genes 50 %
NEUROFIBROMATOSIS TYPE 2. By Laboratorio de Genetica Clinica SL in Spain. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis Type 2 , Sequencing NF2 Gene. By Reference Laboratory Genetics in Spain. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis Type 2 , Deletions-Duplications (MLPA) NF2 Gene. By Reference Laboratory Genetics in Spain. NF2 Specificity 100 % Genes 25 %
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 3 % Genes 50 %
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. PDGFB, SMARCB1, SMARCE1, LZTR1, SUFU, NF2, PTEN Specificity 43 % Genes 75 %
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN Specificity 17 % Genes 25 %
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes. By Reference Laboratory Genetics in Spain. SPRED1, NF1, NF2 Specificity 34 % Genes 25 %
Neurofibromatosis, type 2. By Labor Dr. Wisplinghoff in Germany. NF2 Specificity 100 % Genes 25 %
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 6 % 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 3 % 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 4 % Genes 50 %
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 1 % Genes 75 %
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 %
Brain, CNS, and PNS Cancer: Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 7 % Genes 25 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL Specificity 7 % Genes 25 %
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 2 % 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 4 % 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 4 % Genes 50 %
Neurofibromatosis 2: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. NF2 Specificity 100 % Genes 25 %
Neurofibromatosis 2: gene deletion/duplication. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. NF2 Specificity 100 % Genes 25 %
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 25 %
Noonan Syndrome 11-Gene Sequencing Panel. By Center for Human Genetics, Inc in United States. LZTR1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, KRAS, BRAF, RAF1 Specificity 10 % Genes 25 %
Rasopathy NextGen Panel. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. PPP1CB, A2ML1, RRAS, RASA2, SPRED1, LZTR1, ACTG1, ACTB, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...) View the complete list with 1 more genes Panel GTR000554042 complete gene list PPP1CB, A2ML1, RRAS, RASA2, SPRED1, LZTR1, ACTG1, ACTB, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 5 % Genes 25 %
LZTR1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. LZTR1 Specificity 100 % Genes 25 %
Schwannomatosis (sequence analysis of LZTR1 gene). By CGC Genetics in Portugal. LZTR1 Specificity 100 % Genes 25 %
Schwannomatosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SMARCB1, LZTR1 Specificity 100 % Genes 50 %
Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MAP3K8, SPRY1, A2ML1, RRAS, RASA2, KAT6B, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...) View the complete list with 1 more genes Panel GTR000507720 complete gene list MAP3K8, SPRY1, A2ML1, RRAS, RASA2, KAT6B, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 5 % Genes 25 %
Noonan Syndrome via the LZTR1 Gene. By PreventionGenetics PreventionGenetics in United States. LZTR1 Specificity 100 % Genes 25 %
Noonan syndrome core Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 8 % Genes 25 %
Noonan syndrome core Comprehensive panel. By Connective Tissue Gene Tests in United States. LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 8 % Genes 25 %
Noonan syndrome core NGS panel. By Connective Tissue Gene Tests in United States. LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 8 % Genes 25 %
Hypertrophic cardiomyopathy - different panels. By Institute of Human Genetics Cologne University in Germany. AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1 , (...) View the complete list with 45 more genes Panel GTR000558414 complete gene list AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1, MAP2K2, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, PHKA1, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, DLD, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, A2ML1, RRAS, RASA2, ACAD9, AARS2, TTR 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 50 %
Noonan syndrome - different panels. By Institute of Human Genetics Cologne University in Germany. A2ML1, RRAS, RASA2, LZTR1, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 8 % Genes 25 %
LZTR1. By MGZ Medical Genetics Center in Germany. LZTR1 Specificity 100 % Genes 25 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 1 % Genes 25 %
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 50 %
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 50 %
Noonan syndrome type 10. By Centogene AG - the Rare Disease Company in Germany. LZTR1 Specificity 100 % Genes 25 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 1 % Genes 25 %
Arrhythmia General Panel. By Health in Code in Spain. GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...) View the complete list with 198 more genes Panel GTR000530668 complete gene list GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 25 %
Hypertrophic cardiomyopathy extended panel. By Health in Code in Spain. MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...) View the complete list with 84 more genes Panel GTR000530670 complete gene list MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, PDLIM3, CASQ2, RYR2, ANK2, KCNJ8, LAMP2, LZTR1, TCAP, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR Specificity 1 % Genes 25 %
Cardiomyopathies General Panel. By Health in Code in Spain. NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...) View the complete list with 153 more genes Panel GTR000530674 complete gene list NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5, OBSL1, AGPAT2, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, KCNQ1, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 25 %
RASopathies Panel. By Health in Code in Spain. A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 6 % Genes 25 %
RASOPATHY-RELATED SYNDROME. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 6 % Genes 25 %
NOONAN SYNDROME. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. A2ML1, RRAS, RASA2, LZTR1, NF1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 7 % Genes 25 %
LZTR1. By Fulgent Genetics Fulgent Genetics in United States. LZTR1 Specificity 100 % Genes 25 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, TGFB3, ACTC1, CASQ2, RYR2, PKP2, ABCC9, ABCC6, RRAS, RASA2, SPRED1, LAMP2, LZTR1, VPS13A, EEF1A2, SCN5A, HCN4, LARGE1, LAMA2, SMCHD1, ISPD, SGCD, TCAP, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 25 %
Comprehensive Short Stature Syndrome Panel. By Blueprint Genetics in Finland. IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...) View the complete list with 55 more genes Panel GTR000552721 complete gene list IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, STAT5B, INSR, RBBP8, B3GAT3, GNAS, TRIM37, EP300, LHX3, LHX4, TBX19, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX3, LZTR1, ACTG1, ACTB, FGD1, CENPJ, GHR, GH1, POU1F1, SHOX, GHRHR, PROP1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, DHCR7, CREBBP, BRAF, FGFR3, HESX1, SOX2, RAF1, OTX2, PITX2, BCS1L Specificity 2 % Genes 25 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 25 %
Noonan Syndrome Panel. By Blueprint Genetics in Finland. PPP1CB, RRAS, RASA2, NSUN2, SPRED1, LZTR1, ACTG1, ACTB, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS , (...) View the complete list with 2 more genes Panel GTR000552619 complete gene list PPP1CB, RRAS, RASA2, NSUN2, SPRED1, LZTR1, ACTG1, ACTB, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 5 % 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 %
Schwannomatosis, Sequencing LZTR1 Gene. By Reference Laboratory Genetics in Spain. LZTR1 Specificity 100 % Genes 25 %
Schwannomatosis, Deletions-Duplications (MLPA) LZTR1 Gene. By Reference Laboratory Genetics in Spain. LZTR1 Specificity 100 % Genes 25 %
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 %
Coenzyme Q10 deficiency (NGS panel for 8 genes). By CGC Genetics in Portugal. APTX, ETFDH, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 13 % Genes 25 %
Coenzyme Q10 deficiency, primary, 6. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COQ6 Specificity 100 % Genes 25 %
Coenzyme Q10 deficiency, primary, 6. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COQ6 Specificity 100 % Genes 25 %
Congenital abnormalities of the kidney and urinary tract. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. COQ6 Specificity 100 % Genes 25 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAGE3, OSGEP, TP53RK, TPRKB, LAMA5, KANK1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2 , (...) View the complete list with 29 more genes Panel GTR000509600 complete gene list ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAGE3, OSGEP, TP53RK, TPRKB, LAMA5, KANK1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 25 %
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. COQ4, COQ8B, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 9 % Genes 25 %
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. COQ6 Specificity 100 % Genes 25 %
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 1 % Genes 25 %
Nephrotic syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...) View the complete list with 22 more genes Panel GTR000560983 complete gene list FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 25 %
Nephrotic syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...) View the complete list with 22 more genes Panel GTR000560986 complete gene list FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 25 %
Nephrotic syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...) View the complete list with 22 more genes Panel GTR000560987 complete gene list FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 25 %
Coenzyme Q10 deficiency. By Institute of Human Genetics Cologne University in Germany. COQ8B, COQ2, COQ6, PDSS2 Specificity 25 % Genes 25 %
CoQ10 Deficiency. By MGZ Medical Genetics Center in Germany. ANO10, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 10 % Genes 25 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center in Germany. UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...) View the complete list with 97 more genes Panel GTR000552435 complete gene list UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT, SOX17, HPSE2, ETV5, LRIG2, SLC7A9, SEC63, WNK4, CUL3, MYO1E, CLCN5, PAX8, REN, MUC1, CRB2, FRAS1, WNT4, FREM2, GRIP1, APPL1, PRKCSH, HOGA1, SMARCAL1, ITGA3, COQ8B, BMP4, FREM1, BLK, KLF11, PAX4, GREM1, ZIC3, KLHL3, APOL1, DGKE, NOD2, CD2AP, ACE, ACTA2, CLCNKA, MYH9, GATA3, SIX1, SIX5, SALL1, OFD1, KCNJ10, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, ACTN4, SLC12A3, LAMB2, COL4A4, UMOD, INF2, HNF4A, PDX1, INS, ANOS1, CASR, KCNJ11, CEL, WNK1, PKHD1, ABCC8, GRHPR, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, SLC3A1, AGXT, COQ2, CYP24A1, COQ6, PDSS2, COQ9, GCK, OCRL, RET, HNF1B, WT1, EYA1, NEUROD1, HNF1A, ALPL, VHL Specificity 1 % Genes 25 %
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 25 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic. By MGZ Medical Genetics Center in Germany. TRIT1, RMND1, EARS2, SCO1, COX10, FBXL4, SLC19A3, MTFMT, SUCLG1, NDUFS2, SURF1, MPV17, PDHA1, ETHE1, SCO2, COQ2, TK2, COQ8A, SUCLA2, TMEM70 , (...) View the complete list with 13 more genes Panel GTR000521056 complete gene list TRIT1, RMND1, EARS2, SCO1, COX10, FBXL4, SLC19A3, MTFMT, SUCLG1, NDUFS2, SURF1, MPV17, PDHA1, ETHE1, SCO2, COQ2, TK2, COQ8A, SUCLA2, TMEM70, DGUOK, COQ6, PDSS1, PDSS2, COQ9, MTO1, RRM2B, NDUFS4, POLG, TRMU, TWNK, ACAD9, AARS2 Specificity 4 % Genes 25 %
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 1 % Genes 25 %
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 1 % Genes 25 %
Coenzyme Q Deficiency Panel. By CeGaT GmbH in Germany. APTX, ETFDH, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 13 % Genes 25 %
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 1 % Genes 25 %
Focal Segmental Glomerulosclerosis Panel. By CeGaT GmbH in Germany. ALDH1A2, NXF5, ARHGAP24, ANLN, MYO1E, WDR73, CRB2, APOL1, CD2AP, TRPC6, ACTN4, INF2, PAX2, COQ6 Specificity 8 % Genes 25 %
Coenzyme Q Deficiency Panel. By CeGaT GmbH in Germany. APTX, ETFDH, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 13 % Genes 25 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes). By Asper Biogene Asper Biogene LLC in Estonia. NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC , (...) View the complete list with 112 more genes Panel GTR000520058 complete gene list NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, CPT1A, ISCU, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, CISD2, SPG7, COQ2, PDP1, GFM1, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, GATM, GAMT, TMEM126A, GFER, G6PC, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, DNM1L, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, FH, OPA3, HADHA, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, SLC25A4, HSPD1, NDUFS4, POLG, DLD, WFS1, TRMU, OPA1, CPT2, SLC37A4, C12orf65, TWNK, BCS1L, AUH, ATPAF2, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACADVL, ACADS, ACADM, ACADL, ACAD9, AARS2 Specificity 1 % Genes 25 %
NEPHROTIC SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PTPRO, ARHGDIA, MYO1E, STS, ITGA3, CD2AP, TRPC6, PLCE1, LAMB2, INF2, NPHS1, NPHS2, MPV17, COQ6, WT1 Specificity 7 % Genes 25 %
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 25 %
COQ6. By Fulgent Genetics Fulgent Genetics in United States. COQ6 Specificity 100 % Genes 25 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 1 % Genes 25 %
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 25 %
Coenzyme q10 Deficiency Panel. By Blueprint Genetics in Finland. SLC25A26, COQ5, COQ7, COQ4, ANO10, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 7 % Genes 25 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1 , (...) View the complete list with 13 more genes Panel GTR000522221 complete gene list ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 4 % Genes 25 %
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. PTPRO, ARHGDIA, MYO1E, ITGA3, CD2AP, TRPC6, PLCE1, LAMB2, INF2, NPHS1, NPHS2, COQ6, WT1 Specificity 8 % Genes 25 %
Coenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. COQ4, ANO10, APTX, ETFDH, ETFA, ETFB, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 9 % Genes 25 %
Primary Coenzyme Q10 Deficiency: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. COQ7, COQ4, COQ2, COQ8A, COQ6, PDSS1, PDSS2, COQ9 Specificity 13 % Genes 25 %
Coffin-Siris Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, HELLS, SMARCE1, ARID2, ARID1B, ADNP, PHF6, ANKRD11, PIGV, KMT2D, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...) View the complete list with 2 more genes Panel GTR000558814 complete gene list SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, HELLS, SMARCE1, ARID2, ARID1B, ADNP, PHF6, ANKRD11, PIGV, KMT2D, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8, BTD Specificity 5 % Genes 25 %
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 25 %
SMARCB1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SMARCB1 Specificity 100 % Genes 25 %
Cornelia de Lange Syndrome PLUS Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. ROR2, ESCO2, WNT5A, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8 , (...) View the complete list with 1 more genes Panel GTR000527842 complete gene list ROR2, ESCO2, WNT5A, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8, CREBBP Specificity 5 % Genes 25 %
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago in United States. CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...) View the complete list with 153 more genes Panel GTR000500162 complete gene list CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR, NRXN2, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD2, PGAP1, ARID1A, SMARCB1, SMARCA4, SOX11, DNMT3A, PCNT, NSUN2, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, MED12, MID1, ADNP, PTCHD1, PRPS1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, DYRK1A, GRIN1, NRXN1, ST3GAL3, NEXMIF, PURA, SRPX2, FLNA, PQBP1, DCX, DEAF1, MBD5, GRIN2A, GRIN2B, SCN2A, DYNC1H1, KIF1A, L1CAM, SMC1A, SYNGAP1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, ZNF407, ADAT3, CLIP1, CRADD, EZR, FBXO31, FMN2, WASHC4, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CDKL5, ARX, SLC6A8, L2HGDH, ALDH5A1, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, D2HGDH, ALG6, TUSC3, TUBA1A, STXBP1, IDH2, MECP2, NHS, HPRT1, OCRL, HSD17B10, UBE3A, FMR1 Specificity 1 % Genes 25 %
Coffin-Siris syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24 Specificity 10 % Genes 25 %
Coffin-Siris syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24 Specificity 10 % Genes 25 %
Cornelia de Lange PLUS Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. ROR2, ESCO2, WNT5A, AFF4, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...) View the complete list with 2 more genes Panel GTR000558946 complete gene list ROR2, ESCO2, WNT5A, AFF4, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8, CREBBP Specificity 5 % Genes 25 %
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 25 %
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 25 %
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 25 %
SMARCB1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SMARCB1 Specificity 100 % Genes 25 %
SMARCB1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SMARCB1 Specificity 100 % Genes 25 %
SMARCB1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SMARCB1 Specificity 100 % Genes 25 %
INI1/SMARCB1. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SMARCB1 Specificity 100 % Genes 25 %
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 5 % Genes 25 %
Rhabdoid tumor syndrome (sequence analysis of SMARCB1 gene). By CGC Genetics in Portugal. SMARCB1 Specificity 100 % Genes 25 %
Rhabdoid tumor syndrome (deletion/duplication analysis of SMARCB1 gene). By CGC Genetics in Portugal. SMARCB1 Specificity 100 % Genes 25 %
Coffin-Siris syndrome (NGS panel of 5 genes). By CGC Genetics in Portugal. ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B Specificity 20 % Genes 25 %
Schwannomatosis (sequence analysis of SMARCB1 gene). By CGC Genetics in Portugal. SMARCB1 Specificity 100 % Genes 25 %
Schwannomatosis (sequence analysis of SMARCB1 gene). By CGC Genetics in Portugal. SMARCB1 Specificity 100 % Genes 25 %
SMARCB1 Sequencing and Deletion/Duplication on Blood. By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1 Specificity 100 % Genes 25 %
Rhabdoid Tumor Predisposition NGS Panel. By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1 Specificity 100 % Genes 25 %
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 4 % Genes 25 %
Rhabdoid Tumor Predisposition Syndrome via SMARCB1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SMARCB1 Specificity 100 % Genes 25 %
Coffin-Siris Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B Specificity 17 % Genes 25 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. WDR26, KDM1A, TAF6, DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1 , (...) View the complete list with 12 more genes Panel GTR000556632 complete gene list WDR26, KDM1A, TAF6, DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1, TAF1, ARID1B, MED12, PHF6, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8, CREBBP, CHD7 Specificity 4 % Genes 25 %
Coffin-Siris syndrome. By Institute of Human Genetics Cologne University in Germany. SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, PHF6 Specificity 17 % Genes 25 %
Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS). By MGZ Medical Genetics Center in Germany. SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B, PHF6 Specificity 15 % Genes 25 %
Schwannomatosis. By MGZ Medical Genetics Center in Germany. SMARCB1 Specificity 100 % Genes 25 %
SMARCB1-Related Coffin-Siris Syndrome. By MGZ Medical Genetics Center in Germany. SMARCB1 Specificity 100 % Genes 25 %
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 7 % Genes 25 %
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 1 % Genes 25 %
Gastrointestinal Stromal Tumor. By MGZ Medical Genetics Center in Germany. KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2 Specificity 10 % Genes 25 %
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 2 % Genes 25 %
Rhabdoid tumors, somatic. By Centogene AG - the Rare Disease Company in Germany. SMARCB1 Specificity 100 % Genes 25 %
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 25 %
Mental retardation, autosomal dominant type 15. By Centogene AG - the Rare Disease Company in Germany. SMARCB1 Specificity 100 % Genes 25 %
Invitae Rhabdoid Tumor Predisposition Syndrome Panel. By Invitae in United States. SMARCB1, SMARCA4 Specificity 50 % Genes 25 %
Invitae Schwannomatosis Test. By Invitae in United States. SMARCB1 Specificity 100 % Genes 25 %
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 5 % Genes 25 %
Schwannomatosis 1, susceptibility to: SMARCB1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SMARCB1 Specificity 100 % Genes 25 %
Rhabdoids, predisposition syndrome 1 / somatic turmors: SMARCB1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SMARCB1 Specificity 100 % Genes 25 %
COFFIN-SIRIS SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B Specificity 20 % Genes 25 %
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 2 % Genes 25 %
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 25 %
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 25 %
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 25 %
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 5 % Genes 25 %
SMARCB1. By Fulgent Genetics Fulgent Genetics in United States. SMARCB1 Specificity 100 % Genes 25 %
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 4 % 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 2 % Genes 25 %
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 3 % Genes 25 %
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 4 % Genes 25 %
Neurofibromatosis type 3. By Bioarray in Spain. SMARCB1 Specificity 100 % Genes 25 %
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 2 % Genes 25 %
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 2 % Genes 25 %
RABDOID TUMOR. By Laboratorio de Genetica Clinica SL in Spain. SMARCB1, SMARCA4 Specificity 50 % Genes 25 %
SMARCB1 sanger sequencing and Del/Dup. By Children's Hospital of Los Angeles, Center for Personalized Medicine in United States. SMARCB1 Specificity 100 % Genes 25 %
Coffin-Siris Syndrome, Sequencing SMARCB1 Gene. By Reference Laboratory Genetics in Spain. SMARCB1 Specificity 100 % Genes 25 %
Schwannomatosis, Sequencing SMARCB1 Gene. By Reference Laboratory Genetics in Spain. SMARCB1 Specificity 100 % Genes 25 %
Rhabdoid Tumor Predisposition Syndrome , Sequencing SMARCB1 Gene. By Reference Laboratory Genetics in Spain. SMARCB1 Specificity 100 % Genes 25 %
Coffin-Siris Syndrome , Deletions-Duplications (MLPA) SMARCB1 Gene. By Reference Laboratory Genetics in Spain. SMARCB1 Specificity 100 % Genes 25 %
Schwannomatosis, Deletions-Duplications (MLPA) SMARCB1 Gene. By Reference Laboratory Genetics in Spain. SMARCB1 Specificity 100 % Genes 25 %
Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. ARID1A, SMARCB1, SMARCA4, SMARCE1, ARID1B Specificity 20 % Genes 25 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes. By Reference Laboratory Genetics in Spain. ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR , (...) View the complete list with 71 more genes Panel GTR000559831 complete gene list ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, FMN2, WASHC4, NDST1, TAF2, TTI2, ZMYND11, VLDLR, DPP6, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, ARID1A, SMARCB1, SMARCA4, NSUN2, IL1RAPL1, ARHGEF6, BRWD3, SHROOM4, RPS6KA3, FTSJ1, GDI1, UPF3B, TSPAN7, DLG3, ZNF711, AFF2, HUWE1, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, KIRREL3, MED12, ADNP, SETBP1, CASK, OPHN1, KDM5C, PAK3, SYP, FGD1, ATRX, CNTNAP2, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, TBL1XR1, PQBP1, DEAF1, MBD5, GRIN2B, DYNC1H1, KIF1A, SYNGAP1, MEF2C, ARX, SLC6A8, ACSL4, TUSC3, STXBP1, MECP2 Specificity 2 % Genes 25 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes. By Reference Laboratory Genetics in Spain. ZBTB18, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CDH15, CACNG2, EPB41L1, ZMYND11, DPP6, ARID1A, SMARCB1, SMARCA4, CTNNB1, ARID1B, EHMT1, KIRREL3, ADNP, SETBP1 , (...) View the complete list with 11 more genes Panel GTR000560020 complete gene list ZBTB18, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CDH15, CACNG2, EPB41L1, ZMYND11, DPP6, ARID1A, SMARCB1, SMARCA4, CTNNB1, ARID1B, EHMT1, KIRREL3, ADNP, SETBP1, DYRK1A, GRIN1, KANSL1, TBL1XR1, DEAF1, MBD5, GRIN2B, DYNC1H1, KIF1A, SYNGAP1, MEF2C Specificity 4 % Genes 25 %
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 4 % Genes 25 %
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 5 % Genes 25 %
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 5 % Genes 25 %
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 3 % Genes 25 %

Alternate names

Neurofibromatosis, Type Iii, Mixed Central And Peripheral; Nf3a Is also known as neurofibromatosis, type iii, of riccardi, nf iii;nf3, neurofibromatosis, type iii, riccardi type;nf3; neurilemmomatosis; schwannomatosis.

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