Panel Name, Specifity and genes Tested/covered |
ALDH16A1.
By Fulgent Genetics Fulgent Genetics in United States.
ALDH16A1
Specificity
100 %
Genes
50 %
|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
50 %
|
HPRT Sequence Analysis.
By Baylor Miraca Genetics Laboratories in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
HPRT Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
HPRT Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)
View the complete list with 214 more genes
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2, TUBA1A, CTSD, SLC25A22, ALG9, GRN, GLDC, AMT, SLC9A6, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, TPP1, CLN3, WWOX, SLC6A8, FGFR3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SLC2A1, WDR62, TSC2, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, GPC3, CLN6, CLN8, FKTN, PPT1, PEX7, POMGNT1, CLN5, PHGDH, PLA2G6, DPYD, CSTB, SCN1A, NOTCH3, FKRP, CACNA1A, KCNJ11, CASR, DYNC1H1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D1, RBFOX1, CACNA2D2, MAGI2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2
Specificity
1 %
Genes
50 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.
By Athena Diagnostics Inc in United States.
ATP6V0A2, HPRT1, ADGRV1, PANK2, RAI1, TSC2, SYNGAP1, SMC3, TSC1, NIPBL, PLA2G6, KCNA1, LGI1, KMT2D, MAGI2, KANSL1, ROGDI, PIGA, PIGN, PIGV , (...)
View the complete list with 11 more genes
ATP6V0A2, HPRT1, ADGRV1, PANK2, RAI1, TSC2, SYNGAP1, SMC3, TSC1, NIPBL, PLA2G6, KCNA1, LGI1, KMT2D, MAGI2, KANSL1, ROGDI, PIGA, PIGN, PIGV, ANKRD11, KCNJ10, KIF1BP, SERPINI1, SETBP1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2
Specificity
4 %
Genes
50 %
|
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)
View the complete list with 63 more genes
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, HDAC8, TSC2, RAD21, SMC3, SMC1A, TSC1, NIPBL, NSD1, SCN1A, L1CAM, SYNE1, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, BCKDK, PQBP1, RELN, PAFAH1B1, SETD2, TBL1XR1, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, SETBP1, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, UBE3C, CTNNB1, NLGN4X, NLGN3
Specificity
2 %
Genes
50 %
|
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)
View the complete list with 94 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, HDAC8, SMC1A, GPC3, L1CAM, MTM1, DCX, PQBP1, FLNA, SRPX2, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, OGT, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, GSPT2, LAS1L, EIF2S3, FAAH2, WDR13, ZCCHC12, ZMYM3, FRMPD4, CLCN4, CCDC22, CDK16, CNKSR2, THOC2
Specificity
1 %
Genes
50 %
|
Autsim Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)
View the complete list with 87 more genes
FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, RBFOX1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, AFF2, UBE2A, RPL10, SNRPN, MAGEL2, SMARCB1, SLC9A9, PCDH9, GRPR, DPP6, DPP10, DLGAP2, CNTNAP5, ZNHIT6, ZNF804A, ZNF507, STK3, ST7, SOX5, SMG6, SATB2, PON3, PIP5K1B, PDE10A, NEGR1, KLHL3, KCTD13, KATNAL2, IMMP2L, GNA14, GABRG1, DOCK4, AUTS2, SLC6A4, BDNF, AVPR1A, NR1I3
Specificity
1 %
Genes
50 %
|
Dystonia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)
View the complete list with 57 more genes
PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, CACNA1A, TOR1A, THAP1, GCH1, SGCE, FA2H, CHMP2B, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, AP1S2, TAF1, ERCC6, C19orf12, ADAR, CP, DCAF17, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3
Specificity
2 %
Genes
50 %
|
Movement Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)
View the complete list with 72 more genes
PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, GBA, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, PLA2G6, MAPT, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, KIF1A, FA2H, DCTN1, CHMP2B, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, AP1S2, TAF1, ERCC6, C19orf12, ADAR, FTL, CP, DCAF17, CSF1R, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3, VPS35
Specificity
2 %
Genes
50 %
|
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)
View the complete list with 68 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, SMC1A, GPC3, L1CAM, DCX, PQBP1, FLNA, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, ZNF711, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, IL1RAPL1, FRMPD4, CCDC22, CNKSR2, PGK1
Specificity
2 %
Genes
50 %
|
X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)
View the complete list with 68 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, SMC1A, GPC3, L1CAM, DCX, PQBP1, FLNA, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, ZNF711, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, IL1RAPL1, FRMPD4, CCDC22, CNKSR2, PGK1
Specificity
2 %
Genes
50 %
|
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)
View the complete list with 67 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, SMC1A, GPC3, L1CAM, DCX, PQBP1, FLNA, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, ZNF711, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, IL1RAPL1, FRMPD4, CCDC22, CNKSR2, PGK1
Specificity
2 %
Genes
50 %
|
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)
View the complete list with 153 more genes
FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SYNGAP1, SMC1A, L1CAM, KIF1A, DYNC1H1, SCN2A, GRIN2B, GRIN2A, MBD5, DEAF1, DCX, PQBP1, FLNA, SRPX2, PURA, NEXMIF, ST3GAL3, NRXN1, GRIN1, DYRK1A, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PRPS1, PTCHD1, ADNP, MID1, MED12, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MAGT1, ZNF711, ZNF41, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, ZDHHC9, BRWD3, CLIC2, SLC16A2, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, FRMPD4, CCDC22, NSUN2, PCNT, DNMT3A, SOX11, SMARCA4, SMARCB1, ARID1A, PGAP1, DDHD2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, NRXN2, VLDLR, PACS1, KPTN, SLC25A1, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, WASHC4, FMN2, FBXO31, EZR, CRADD, CLIP1, ADAT3, ZNF407, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF674, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8
Specificity
1 %
Genes
50 %
|
X-linked Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
FMR1, HSD17B10, OCRL, HPRT1, NHS, MECP2, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, SLC6A8, ARX, CDKL5, PCDH19, PLP1, SMC1A, L1CAM, DCX, PQBP1 , (...)
View the complete list with 59 more genes
FMR1, HSD17B10, OCRL, HPRT1, NHS, MECP2, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, SLC6A8, ARX, CDKL5, PCDH19, PLP1, SMC1A, L1CAM, DCX, PQBP1, FLNA, SRPX2, NEXMIF, OFD1, SMS, ATRX, IQSEC2, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MAGT1, ZNF711, ZNF41, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, ZDHHC9, BRWD3, CLIC2, SLC16A2, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, FRMPD4, CCDC22, ZNF674
Specificity
2 %
Genes
50 %
|
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)
View the complete list with 150 more genes
AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2, GAMT, SPR, STXBP1, SUCLA2, COQ8A, HTRA2, CTSD, GRN, PARK7, PINK1, SQSTM1, PDHA1, TIMM8A, MMADHC, HEXA, GM2A, SUOX, PTS, QDPR, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DLAT, L2HGDH, CBS, GCDH, LRPPRC, CYP27A1, PRKN, APTX, TPP1, CLN3, PNKD, TACO1, SLC6A8, PDHX, SDHA, ARSA, ARX, FOXG1, NPC1, NPC2, PLP1, SLC2A1, ATM, CLN6, CLN8, PPT1, TH, MLC1, CLN5, PLA2G6, TOR1A, THAP1, GCH1, SGCE, BSCL2, FA2H, ALS2, ATP1A2, ATP1A3, SLC19A3, SYNJ1, TBC1D24, PRRT2, COL4A1, CTSF, DNAJC5, MFSD8, ATP13A2, GNAO1, WDR45, SCN8A, PNKP, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, TAF1, SLC16A2, AARS, NKX2-1, TOR1AIP1, HACE1, IFIH1, C19orf12, TUBB4A, ADAR, FTL, CP, COASY, DCAF17, COX10, CSF1R, TPK1, SLC20A2, FBXO7, EARS2, DDC, SLC6A3, VPS35, XK, TPI1, PRKRA, DNAJC12, MICU1, HEPACAM, COX20, PDGFRB, PDGFB, SERAC1, CLPB, MDH2, KMT2B, MECR, TBCD, UBA5, VAC14, SLC39A14, DNAJC6, GNB1, HIVEP2, ANO3, XPR1, HPCA, KCTD17, LIPT1, ECHS1, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, NUP62
Specificity
1 %
Genes
50 %
|
ExomePLUS Electrolyte & Kidney Stone.
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)
View the complete list with 29 more genes
OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, FGF23, ATP6V1B1, GATA3, GNAS, NR3C2, KLHL3, SLC2A2, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, PTH, GCM2, ENPP1, CLCN5, SLC34A3, AVP, GALNT3, CUL3, WNK4, FAM20A, CLDN16, CLDN19, SLC22A12
Specificity
3 %
Genes
50 %
|
Lesch-Nyhan Syndrome.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.
HPRT1
Specificity
100 %
Genes
50 %
|
Autism/Intellectual Disability/Multiple Anomalies.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.
FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)
View the complete list with 69 more genes
FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS, KRAS, MAP2K1, MEF2C, NRAS, PCDH19, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, FGFR2, HDAC8, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, MET, SCN1A, NF1, FGFR1, L1CAM, ASPM, GABRB3, FOLR1, MBD5, DCX, PQBP1, RELN, PAFAH1B1, KMT2D, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, HOXA1, NLGN4X, NLGN3, RPS6KA3, SPRED1, ERCC6, SLC6A4, BDNF, AVPR1A, RPGRIP1L, ERCC8
Specificity
2 %
Genes
50 %
|
CustomNext: Neuro.
By Ambry Genetics in United States.
FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)
View the complete list with 176 more genes
FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1, ALDH7A1, NDUFA1, TPP1, CLN3, SLC6A8, ARX, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, IDS, MEF2C, PCDH19, PLP1, PORCN, PTPN11, RAI1, SLC2A1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, GPC3, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, L1CAM, KIF1A, DYNC1H1, ATP1A2, CHRNB2, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, DCX, PQBP1, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, SLC13A5, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, ARID1B, NLGN4X, NLGN3, PHF8, HUWE1, LAMP2, DLG3, UBE2A, UPF3B, ZC4H2, GDI1, FTSJ1, RPS6KA3, RPL10, BRWD3, SLC16A2, NSUN2, SMARCA4, SMARCB1, SMARCA2, AP4B1, SATB2, KATNAL2, PACS1, CTCF, MED23, LINS1, TRAPPC9, MAN1B1, CC2D1A, CA8, POGZ, DDX3X, KAT6A
Specificity
1 %
Genes
50 %
|
Neurodevelopment-Expanded.
By Ambry Genetics in United States.
FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)
View the complete list with 176 more genes
FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1, ALDH7A1, NDUFA1, TPP1, CLN3, SLC6A8, ARX, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, IDS, MEF2C, PCDH19, PLP1, PORCN, PTPN11, RAI1, SLC2A1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, GPC3, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A, CACNA1A, L1CAM, KIF1A, DYNC1H1, ATP1A2, CHRNB2, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, TBC1D24, DEPDC5, PRRT2, DCX, PQBP1, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, SLC13A5, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, ARID1B, NLGN4X, NLGN3, PHF8, HUWE1, LAMP2, DLG3, UBE2A, UPF3B, ZC4H2, GDI1, FTSJ1, RPS6KA3, RPL10, BRWD3, SLC16A2, NSUN2, SMARCA4, SMARCB1, SMARCA2, AP4B1, SATB2, KATNAL2, PACS1, CTCF, MED23, LINS1, TRAPPC9, MAN1B1, CC2D1A, CA8, POGZ, DDX3X, KAT6A
Specificity
1 %
Genes
50 %
|
IDNext.
By Ambry Genetics in United States.
FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)
View the complete list with 120 more genes
FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1, NDUFA1, SLC6A8, ARX, CDKL5, CHD7, CREBBP, FOXG1, IDS, MEF2C, PCDH19, PLP1, PORCN, PTPN11, RAI1, SLC2A1, HDAC8, RAD21, SYNGAP1, SMC3, SMC1A, NIPBL, NSD1, GPC3, PPT1, CACNA1A, L1CAM, KIF1A, DYNC1H1, SCN2A, STX1B, FOLR1, GRIN2B, HCN1, PNPO, CHD2, GRIN2A, MBD5, ALG13, DEPDC5, DCX, PQBP1, FLNA, HNRNPU, DNM1, PURA, NEXMIF, GNAO1, WDR45, ST3GAL3, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PNKP, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, VPS13B, PTCHD1, ADNP, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, HOXA1, TBR1, ARID1B, NLGN4X, NLGN3, PHF8, HUWE1, LAMP2, DLG3, UBE2A, UPF3B, ZC4H2, GDI1, FTSJ1, RPS6KA3, RPL10, BRWD3, SLC16A2, NSUN2, SMARCA4, SMARCB1, SMARCA2, AP4B1, SATB2, PACS1, CTCF, MED23, LINS1, TRAPPC9, MAN1B1, CC2D1A, CA8, DDX3X, KAT6A
Specificity
1 %
Genes
50 %
|
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)
View the complete list with 40 more genes
MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2, PCCB, PCCA, OTC, ABCD1, MMADHC, LMBRD1, ALDH7A1, PTS, QDPR, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, IVD, CBS, GCDH, ASS1, CYP27A1, APTX, ASL, PNP, ARSA, IDS, IDUA, NPC1, NPC2, SLC2A1, GCH1, PNPO, DDC, PCBD1, SLC6A19
Specificity
2 %
Genes
50 %
|
Lesch Nyhan Syndrome.
By Human Genetics University Hospital Bern in Switzerland.
HPRT1
Specificity
100 %
Genes
50 %
|
HPRT1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan syndrome (sequence analysis of HPRT1 gene).
By CGC Genetics in Portugal.
HPRT1
Specificity
100 %
Genes
50 %
|
Mental retardation, X-linked (NGS panel for 89 genes).
By CGC Genetics in Portugal.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)
View the complete list with 69 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, HDAC8, SMC1A, GPC3, L1CAM, DCX, PQBP1, FLNA, SRPX2, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, MID1, MED12, AP1S2, NLGN4X, PHF8, IGBP1, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, ZNF711, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, PGK1, MID2, KIF4A
Specificity
2 %
Genes
50 %
|
Lesch-Nyhan syndrome.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Lyhan syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|
Kelley-Seegmiller-Syndrom.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan Syndrome: HPRT1-Sequencing.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via HPRT1 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)
View the complete list with 108 more genes
FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS, PCDH19, PLP1, HDAC8, SMC1A, GPC3, L1CAM, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, NEXMIF, WDR45, PIGA, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, ZNF711, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, IL1RAPL1, LAS1L, EIF2S3, FAAH2, ZCCHC12, ZMYM3, FRMPD4, CLCN4, CCDC22, CDK16, CNKSR2, THOC2, KDM6A, PGK1, HNRNPH2, BCORL1, ARSE, MID2, KIF4A, BCAP31, KCNE5, POLA1, DDX3X, SSR4, HMGB3, RNF113A, ARSF, H2BFWT, NONO, MSL3, DRP2, RLIM, MAGEA11, SLC7A3, MAP7D3, KLHL15, SYTL5, USP27X
Specificity
1 %
Genes
50 %
|
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)
View the complete list with 10 more genes
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1
Specificity
4 %
Genes
50 %
|
Nephrolithiasis and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)
View the complete list with 11 more genes
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1
Specificity
4 %
Genes
50 %
|
Nephrolithiasis and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)
View the complete list with 11 more genes
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1
Specificity
4 %
Genes
50 %
|
Nephrolithiasis and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)
View the complete list with 11 more genes
SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1
Specificity
4 %
Genes
50 %
|
Lesch-nyhan syndrome.
By Institute of Human Genetics Cologne University in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
50 %
|
Hereditary kidney disorders - different panels.
By Institute of Human Genetics Cologne University in Germany.
VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)
View the complete list with 391 more genes
VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, RRM2B, SLC25A13, SDHC, HADHA, FH, CYP11B2, PDSS2, COQ6, SARS2, FAH, HMGCL, CCDC28B, XPNPEP3, G6PC, CYP24A1, SDHB, SLC9A3R1, SUCLA2, IQCB1, HADHB, ALG8, COQ2, PCCB, PCCA, STRA6, OTC, XDH, MMADHC, LMBRD1, PGAM2, CUBN, AGXT, CA2, MMAB, MMAA, MUT, SUCLG1, CBS, PYGM, ETFB, ETFA, ETFDH, GCDH, GALT, FASTKD2, COX6B1, SLC3A1, ASS1, SLC22A5, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ASL, ALMS1, CYP17A1, TMEM127, LMX1B, MEN1, PAX2, TACO1, SDHA, ABCD4, APRT, DHCR7, GLA, HRAS, NPC1, VDR, TSC2, TSC1, NF2, SDHD, FLCN, MET, MAX, SBDS, PRKAR1A, CDC73, RAD51C, COL4A3, CTNS, PEX2, NPHS2, NPHS1, PEX7, SLC7A7, GRHPR, MPL, PEX1, PKHD1, TMEM216, WNK1, AHI1, ATXN10, NF1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, SLC12A3, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, KCNA1, CACNA1H, SCARB2, TBC1D24, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CACNA1D, DCDC2, SIX5, PRPS1, SIX1, GATA3, MYH9, PEX6, TMEM231, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5, KAT6B, WDR35, CLCNKA, MVK, SOX18, PTH1R, AGTR2, MAGT1, TNXB, KCNJ5, POC1B, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PGK1, MEFV, ACE, SALL4, JAK3, CD2AP, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, GNAS, NR3C2, CFHR1, CFHR3, DGKE, ADAMTS13, APOL1, CDKN1B, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A, LRBA, ITGA3, NFKB2, SMARCAL1, CD19, CR2, CD81, HOGA1, ICOS, TNFRSF13C, PRKCSH, MS4A1, NOTCH2, TCTN3, IFT74, IFT172, KIAA0556, CEP104, CEP120, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, CCNQ, FRAS1, NEK1, WDR60, LRP4, CFHR4, CRB2, MUC1, REN, LRP2, STX16, GCM2, ENPP1, CLCN5, SLC34A3, DMP1, DICER1, SERAC1, SLC6A19, COA5, APOPT1, WDR73, LAMC1, KANK2, MYO1E, GALNT3, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, LIFR, EIF2AK4, SLC2A9, SEC63, PEX11B, SEC61A1, GANAB, SLC7A9, FXYD2, SLC5A2, UROD, KL, TRPM6, HMBS, SLC26A3, LRIG2, DIS3L2, GUCY2C, NFKB1, IL21, LYZ, HPSE2, TALDO1, CNNM2, EGF, SOX17, AGT, ARHGDIA, MAFB, ROBO2, BICC1, SLC16A12, CHRM3, WDR34, EMP2, PTPRO, ITGA8, FGF20, ANLN, EHHADH, ALAD, KANK1, TBX18, CFHR2, AGTR1, UPK3A, TRAP1, LAMA5, SGPL1, XPO5, KANK4, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, BMP7, CDC5L, CHD1L, DSTYK, FAN1, FN1, PDE3A, SLC26A1, MOCOS, MAPKBP1, RMND1, IFT52, DYNC2LI1, MAGED2, NRIP1, KCNMB1, SLC22A10, SLC36A2, SLC41A1, TBC1D1, MAGEC1, SLC6A20, KANK3, TMEM260, CLDN10
Specificity
1 %
Genes
50 %
|
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)
View the complete list with 323 more genes
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2, DHODH, PHKA2, PYGL, G6PC, IDH2, PHKG2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, HEXA, HEXB, PHKB, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFA1, MANBA, MAN2B1, CBS, PYGM, GBE1, SLC6A8, FGFR3, ASPA, ARX, GBA, BRAF, CDKL5, CHD7, CHRNA7, CREBBP, DHCR7, DMD, FOXG1, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, PEX2, MLC1, MCOLN1, PEX1, SUMF1, EIF2B5, NF1, FGFR1, MYH7, L1CAM, WASHC5, FHL1, KIF1A, MTM1, EMD, GRIN2B, GRIN2A, MBD5, DCX, PQBP1, FLNA, SRPX2, KMT2D, SETD2, NEXMIF, WDR45, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A, ANKRD11, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, VPS13B, GFAP, SALL1, ACTB, ACTG1, EDN3, POLR1C, PAX3, EDNRA, EDNRB, SNAI2, SOX10, TCOF1, PRPS1, PEX6, TFAP2A, POLR1D, FUCA1, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, FAT4, PEX26, PEX10, PEX12, RASA1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, CCDC22, THOC2, RAB23, POR, TWIST1, SPRED1, NSUN2, RASA2, RRAS, A2ML1, ABCC6, GNPTG, DNMT3A, NFIX, EZH2, RNF135, GLI3, ABCC9, GPSM2, MITF, TP63, MAGEL2, KDM6A, PITX1, ERCC6, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, PGK1, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, CTC1, TRIM37, GNAS, KIF7, CPLANE1, PIK3CA, GNAQ, ALX1, IDH1, INSR, PIK3R2, AKT3, AKT1, ERCC8, EPG5, PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15, ZNF674, TRAPPC9, GRIK2, CRBN, CC2D1A, ALX3, OBSL1, CCDC8, SNX14, SF3B4, HOXD13, ARHGAP31, FLNB, DDX3X, KAT6A, TRPS1, DOCK6, RBPJ, TBX3, DIS3L2, EOGT, DVL1, DCHS1, NOG, LMBR1, TXNL4A, DLL4, BCL11A, MED13L, STRADA, WAC, HERC2, NXF5, REV3L, PLXND1, NFATC2IP
Specificity
1 %
Genes
50 %
|
Syndromal Diseases - panels.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)
View the complete list with 322 more genes
FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2, DHODH, PHKA2, PYGL, G6PC, IDH2, PHKG2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, HEXA, HEXB, PHKB, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFA1, MANBA, MAN2B1, CBS, PYGM, GBE1, SLC6A8, FGFR3, ASPA, ARX, GBA, BRAF, CDKL5, CHD7, CHRNA7, CREBBP, DHCR7, DMD, FOXG1, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, PEX2, MLC1, MCOLN1, PEX1, SUMF1, EIF2B5, NF1, FGFR1, MYH7, L1CAM, WASHC5, FHL1, KIF1A, MTM1, EMD, GRIN2B, GRIN2A, MBD5, DCX, PQBP1, FLNA, SRPX2, KMT2D, SETD2, NEXMIF, WDR45, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A, ANKRD11, KCNJ10, TCF4, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, VPS13B, GFAP, SALL1, ACTB, ACTG1, EDN3, POLR1C, PAX3, EDNRA, EDNRB, SNAI2, SOX10, TCOF1, PRPS1, PEX6, TFAP2A, POLR1D, FUCA1, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, AP1S2, CHD8, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, FAT4, PEX26, PEX10, PEX12, RASA1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, CCDC22, THOC2, RAB23, POR, TWIST1, SPRED1, NSUN2, RASA2, RRAS, A2ML1, ABCC6, GNPTG, DNMT3A, NFIX, EZH2, RNF135, GLI3, ABCC9, GPSM2, MITF, TP63, MAGEL2, KDM6A, PITX1, ERCC6, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, PGK1, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, TRIM37, GNAS, KIF7, CPLANE1, PIK3CA, GNAQ, ALX1, IDH1, INSR, PIK3R2, AKT3, AKT1, ERCC8, EPG5, PACS1, NOTCH2, TCTN3, C2CD3, UBR1, SRCAP, WNT5A, KPTN, TBC1D7, HEPACAM, CCND2, ROR2, CCNQ, IRF6, SPECC1L, CUL7, GATAD2B, EPB41L1, CTCF, CACNG2, ANK3, TECR, MED23, C12orf57, CDH15, ZNF674, TRAPPC9, GRIK2, CRBN, CC2D1A, ALX3, OBSL1, CCDC8, SNX14, SF3B4, HOXD13, ARHGAP31, FLNB, DDX3X, KAT6A, TRPS1, DOCK6, RBPJ, TBX3, DIS3L2, EOGT, DVL1, DCHS1, NOG, LMBR1, TXNL4A, DLL4, BCL11A, MED13L, STRADA, WAC, HERC2, NXF5, REV3L, PLXND1, NFATC2IP
Specificity
1 %
Genes
50 %
|
X-Linked Mental Retardation.
By MGZ Medical Genetics Center in Germany.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)
View the complete list with 93 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8, ARX, CDKL5, DMD, IDS, IKBKG, PCDH19, PLP1, PORCN, HDAC8, SMC1A, GPC3, SLC12A6, L1CAM, FHL1, MTM1, EMD, DCX, PQBP1, FLNA, SRPX2, NEXMIF, WDR45, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, LAS1L, EIF2S3, ZMYM3, CLCN4, THOC2, KDM6A, GAN, CTDP1, PGK1, ZNF674, FAM126A, NXF5
Specificity
1 %
Genes
50 %
|
Brain Malformations / Neuronal Migration Disorders.
By MGZ Medical Genetics Center in Germany.
FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)
View the complete list with 246 more genes
FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1, HGSNAT, SGSH, GALC, CYP27A1, TPP1, CLN3, FGFR3, ASPA, ARX, ELP1, CDKL5, CHD7, FOXG1, IDS, MEF2C, PCDH19, PORCN, SLC2A1, WDR62, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, CDKN1C, GPC3, CLN6, DOK7, PPT1, MLC1, CLN5, EIF2B5, PHGDH, PLA2G6, EIF2B3, CSTB, SCN1A, NOTCH3, SGCE, FGF8, CASR, L1CAM, FA2H, CACNB4, ASPM, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN1B, SCN2A, SYNJ1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ASAH1, TBC1D24, DEPDC5, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, QARS, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, ATP13A2, SETD2, EEF1A2, NEXMIF, WDR45, SCN8A, NRXN1, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, TREX1, VPS13A, HTRA1, PTCHD1, MID1, MED12, EHMT1, AP1S2, CHD8, ARID1B, NLGN4X, NLGN3, NEU1, PHF8, IGBP1, HUWE1, HCFC1, AGTR2, AFF2, MBTPS2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, EIF2S3, ZMYM3, CLCN4, THOC2, EXOSC3, TUBB2A, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, NFIX, EZH2, RNF135, GLI3, GPSM2, KDM6A, HNRNPDL, MYBPC1, SMARCE1, SMARCA4, SMARCB1, ARID1A, SMARCA2, C19orf12, TUBB4A, ADAR, PGK1, FTL, CP, DCAF17, KIF7, EOMES, PIK3CA, DISP1, GNAQ, PIK3R2, AKT3, AKT1, XK, TDGF1, ADA2, OCLN, KPTN, TBC1D7, HEPACAM, CCND2, TUBG1, TUBB, KIF5C, KIF2A, ZNF674, KCNH5, SEPSECS, NOL3, STUB1, ITM2B, POLR3A, POLR3B, COL4A2, DIS3L2, CLP1, DARS, JAM3, ARHGEF15, HERC2, NXF5
Specificity
1 %
Genes
50 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)
View the complete list with 1185 more genes
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B
Specificity
1 %
Genes
50 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
50 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
50 %
|
Lesch-Nyham syndrome.
By Centogene AG - the Rare Disease Company in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|
Hereditary Degenerative Syndromes Panel.
By CeGaT GmbH in Germany.
HTT, ATP7A, ATP7B, AUH, HPRT1, NDUFS4, PANK2, SMPD1, MECP2, SUCLA2, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, ARSA, ARX, FOXG1 , (...)
View the complete list with 29 more genes
HTT, ATP7A, ATP7B, AUH, HPRT1, NDUFS4, PANK2, SMPD1, MECP2, SUCLA2, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, ARSA, ARX, FOXG1, NPC1, NPC2, PLP1, ATM, MLC1, PLA2G6, ATXN2, ATXN3, ATXN7, TBP, ATN1, DCTN1, ARFGEF2, ATP13A2, WDR45, VPS13A, FUCA1, TAF1, SLC16A2, C19orf12, JPH3, FTL, CSF1R, FBXO7, SLC6A3, HEPACAM, SLC30A10, NUP62, DRD1
Specificity
3 %
Genes
50 %
|
HPRT1.
By Innovagenomics Innovagenomics S.L in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Autism Spectrum Disorders.
By Asper Biogene Asper Biogene LLC in Estonia.
UBE3A, ADSL, HPRT1, NHS, MECP2, SLC6A8, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, PCDH19, PTPN11, RAI1, HDAC8, TSC2, RAD21, SMC3 , (...)
View the complete list with 32 more genes
UBE3A, ADSL, HPRT1, NHS, MECP2, SLC6A8, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, PCDH19, PTPN11, RAI1, HDAC8, TSC2, RAD21, SMC3, TSC1, NIPBL, NSD1, SCN1A, SCN2A, PQBP1, RELN, SETD2, NRXN1, ANKRD11, CNTNAP2, ZEB2, VPS13B, SHANK3, PTCHD1, ADNP, NTNG1, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, HOXA1, NLGN4X, RPL10, MAGEL2, SLC9A9, SLC6A4, AVPR1A, PDE8B, EN2
Specificity
2 %
Genes
50 %
|
HPRT1 Gene Sequencing.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.
HPRT1
Specificity
100 %
Genes
50 %
|
Invitae HPRT1-Related Disorders test.
By Invitae in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
Invitae Purine Metabolism Disorders Panel.
By Invitae in United States.
ADSL, HPRT1, XDH, MOCS1, ADA, PNP, AMPD1, GPHN, MOCOS
Specificity
12 %
Genes
50 %
|
Invitae Lesch-Nyhan Syndrome Test.
By Invitae in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan syndrome: HPRT1 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan Syndrome: HPRT1 Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan Syndrome: HPRT1 Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)
View the complete list with 71 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, SMC1A, GPC3, L1CAM, DCX, PQBP1, FLNA, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, ZNF711, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, ZDHHC9, BRWD3, CLIC2, SLC16A2, SOX3, NAA10, NSDHL, IL1RAPL1, KLF8, FRMPD4, CCDC22, CDK16, CNKSR2, PGK1
Specificity
2 %
Genes
50 %
|
Autism Spectrum Disorders: Tier 2 Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)
View the complete list with 42 more genes
FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, SMC1A, NIPBL, NSD1, SCN1A, L1CAM, FOLR1, MBD5, BCKDK, PQBP1, RELN, PAFAH1B1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, NLGN4X, NLGN3, AFF2, UBE2A, MAGEL2, SMARCB1, NR1I3
Specificity
2 %
Genes
50 %
|
Dystonia: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)
View the complete list with 62 more genes
PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, PLA2G6, CACNA1A, TOR1A, THAP1, GCH1, SGCE, FA2H, CHMP2B, COL6A3, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, PNPT1, AP1S2, TAF1, ERCC6, C19orf12, ADAR, VPS37A, CP, DCAF17, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3, PDGFRB, SERAC1
Specificity
2 %
Genes
50 %
|
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)
View the complete list with 39 more genes
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, SMC1A, NIPBL, NSD1, SCN1A, L1CAM, FOLR1, MBD5, BCKDK, PQBP1, RELN, PAFAH1B1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, PTCHD1, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, NLGN4X, NLGN3, AFF2, UBE2A, MAGEL2, SMARCB1, NR1I3
Specificity
2 %
Genes
50 %
|
Autism NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)
View the complete list with 80 more genes
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, RBFOX1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, RPL10, SNRPN, SLC9A9, PCDH9, GRPR, DPP6, DPP10, DLGAP2, CNTNAP5, ZNHIT6, ZNF804A, ZNF507, STK3, ST7, SOX5, SMG6, SATB2, PON3, PIP5K1B, PDE10A, NEGR1, KLHL3, KCTD13, KATNAL2, IMMP2L, GNA14, GABRG1, DOCK4, AUTS2, SLC6A4, BDNF, AVPR1A
Specificity
1 %
Genes
50 %
|
XLID NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)
View the complete list with 87 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX, CDKL5, DMD, IDS, PCDH19, PLP1, PORCN, HDAC8, SMC1A, GPC3, L1CAM, MTM1, DCX, PQBP1, FLNA, SRPX2, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, GSPT2, FAAH2, WDR13, ZCCHC12, FRMPD4, CCDC22, CNKSR2, PGK1, ZNF674
Specificity
1 %
Genes
50 %
|
HPRT1.
By Fulgent Genetics Fulgent Genetics in United States.
HPRT1
Specificity
100 %
Genes
50 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)
View the complete list with 140 more genes
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, IL2RG, AR, ARX, CDKL5, DMD, GLA, IDS, IKBKG, PCDH19, PLP1, PORCN, POU3F4, SRY, HDAC8, G6PD, CYBB, WAS, BTK, GJB1, UBA1, NR0B1, SHOX, ANOS1, AVPR2, COL4A5, L1CAM, FHL1, UBQLN2, MTM1, EMD, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, WDR45, PIGA, OFD1, SMS, ATRX, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, RAB39B, PRPS1, SMPX, MID1, MED12, AP1S2, NLGN4X, NLGN3, GATA1, PHF8, IGBP1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KDM6A, CSF2RA, PGK1, SH2D1A, EFNB1, F9, F8, ZIC3, XIAP, XK, EDA, CCNQ, ARSE, MAMLD1, ZNF674, IGSF1, CLCN5, ATP2B3, STS, POLA1, CFP, AMELX, TRAPPC2, VMA21, CHRDL1, COX7B, TBX22, SLC6A14, SAT1, SERPINA7
Specificity
1 %
Genes
50 %
|
KidneySeq - 264 Genes.
By Iowa Institute of Human Genetics University of Iowa in United States.
TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)
View the complete list with 232 more genes
TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, PDSS2, COQ6, C8orf37, SARS2, FAH, XPNPEP3, CYP24A1, SLC9A3R1, IQCB1, ALG1, COQ2, XDH, CUBN, AGXT, CA2, SLC3A1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LMX1B, PAX2, GSN, APRT, CHD7, CREBBP, DHCR7, GLA, VDR, TSC2, TSC1, GPC3, COL4A3, CTNS, NPHS2, NPHS1, GRHPR, SLC17A5, PKHD1, TMEM216, LMNA, WNK1, APOE, AHI1, ATXN10, FGFR1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, CACNA1H, SCARB2, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CD151, CACNA1D, COL4A6, NLRP3, SIX5, SIX1, GATA3, MYH9, SEMA3E, FOXP1, WDR35, CLCNKA, TNXB, GLI3, KCNJ5, DHTKD1, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ZMPSTE24, MEFV, SALL4, CD2AP, CFI, NR3C2, DGKE, APOL1, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, IFT122, APOA1, GREM1, B9D2, SLC2A2, FGA, VPS33B, VIPAS39, FREM1, BMP4, COQ8B, SLC4A1, ATP6V0A4, ITGA3, ITGB4, TNFRSF1A, SMARCAL1, HOGA1, NOTCH2, TCTN3, C2CD3, IFT74, IFT172, TMEM107, KIF14, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, NEK1, CRB2, ENPP1, CLCN5, SLC34A3, DMP1, SRGAP1, WDR73, B2M, GDNF, MYO1E, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, FXYD2, SLC5A2, SLC5A1, TRPM6, LYZ, CNNM2, EGF, SOX17, ARHGDIA, ROBO2, PBX1, EMP2, PTPRO, ITGA8, KCTD1, FGF20, ANLN, EHHADH, TBX18, AGTR1, UPK3A, TRAP1, SGPL1, XPO5, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, CHD1L, DSTYK, FAN1, FN1, ADCY10, MAGED2, SLC41A1, DACH1, E2F3, DLC1, KIF12, SLIT2, DLG1
Specificity
1 %
Genes
50 %
|
X-linked Intellectual Disability Panel.
By Blueprint Genetics in Finland.
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)
View the complete list with 79 more genes
FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8, ARX, CDKL5, IDS, PCDH19, PLP1, PORCN, SMC1A, GPC3, L1CAM, MTM1, DCX, PQBP1, FLNA, SRPX2, NEXMIF, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, PRPS1, PTCHD1, MID1, MED12, AP1S2, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, ZDHHC9, BRWD3, TAF1, SLC16A2, SOX3, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, CLCN4, PGK1, ZNF674, DDX3X, NXF5, ELK1
Specificity
2 %
Genes
50 %
|
Comprehensive Metabolism Panel.
By Blueprint Genetics in Finland.
HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)
View the complete list with 414 more genes
HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3
Specificity
1 %
Genes
50 %
|
Nephrolithiasis Panel.
By Blueprint Genetics in Finland.
ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)
View the complete list with 15 more genes
ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, GPHN, ADCY10, SLC26A1, MOCOS
Specificity
3 %
Genes
50 %
|
Purine and Pyrimidine Metabolism Disorders Panel.
By Blueprint Genetics in Finland.
ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)
View the complete list with 1 more genes
ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS, MOCOS
Specificity
5 %
Genes
50 %
|
Lesch-Nyhan syndrome.
By Bioarray in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Rapid microarray (CGH and SNP).
By Allele Diagnostics Allele Diagnostics in United States.
FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)
View the complete list with 153 more genes
FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL, PITX2, JAG1, NDP, HPRT1, NPHP1, ADGRV1, SHH, MECP2, FBN1, SDHB, STXBP1, TUSC3, OTC, HCCS, GK, TIMM8A, AMER1, BCOR, SLC3A1, APTX, SOX2, LMX1B, AR, ARSA, CDKL5, CHD7, CREBBP, DMD, FOXG1, GJB6, MEF2C, PCDH19, PLP1, PORCN, RAI1, RPS19, RUNX2, SLC2A1, SRY, TSC2, SYNGAP1, TSC1, NIPBL, NSD1, PTCH1, NF2, STK11, SDHD, GPC3, BMPR1A, SMAD4, ENG, CTNS, CYBB, ABCC8, BTK, PMP22, SCN1A, GCH1, NF1, SGCE, NR0B1, SHOX, ANOS1, GHR, COL4A5, PKD1, MTM1, EMD, LARGE1, SCN2A, KCNQ2, MBD5, DCX, SIX3, PAFAH1B1, ADGRG1, KRIT1, CCM2, PDCD10, MAGI2, NRXN1, TCF4, CNTNAP2, FGD1, GRIA3, OPHN1, CASK, ZEB2, VPS13B, TBX1, SHANK2, SALL1, COL4A6, PAX3, EDNRB, SOX10, FGF3, GATA3, OTOA, MID1, FOXP2, FOXP1, EHMT1, PHF8, FTSJ1, SOX3, NSDHL, IL1RAPL1, MSX2, TWIST1, SOX9, TGIF1, ZIC2, GLI3, MITF, ACVRL1, DOCK8, NKX2-5, SH2D1A, NR5A1, KCNQ1OT1, LHX4, ALX4, SALL4, TBX5, EFNB1, F9, F8, ZIC3, MYCN, VLDLR, EXT2, XK, EDA, NFIA, MNX1, CCNQ, IRF6, ARSE, MAMLD1, PREPL, FLI1, GRIK2, STS, TRPS1, HDAC4, TBX3, YWHAE, FBXW4, IGF2, SEM1, CRK
Specificity
1 %
Genes
50 %
|
High-Resolution Rapid Microarray (CGH and SNP).
By Allele Diagnostics Allele Diagnostics in United States.
FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)
View the complete list with 153 more genes
FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL, PITX2, JAG1, NDP, HPRT1, NPHP1, ADGRV1, SHH, MECP2, FBN1, SDHB, STXBP1, TUSC3, OTC, HCCS, GK, TIMM8A, AMER1, BCOR, SLC3A1, APTX, SOX2, LMX1B, AR, ARSA, CDKL5, CHD7, CREBBP, DMD, FOXG1, GJB6, MEF2C, PCDH19, PLP1, PORCN, RAI1, RPS19, RUNX2, SLC2A1, SRY, TSC2, SYNGAP1, TSC1, NIPBL, NSD1, PTCH1, NF2, STK11, SDHD, GPC3, BMPR1A, SMAD4, ENG, CTNS, CYBB, ABCC8, BTK, PMP22, SCN1A, GCH1, NF1, SGCE, NR0B1, SHOX, ANOS1, GHR, COL4A5, PKD1, MTM1, EMD, LARGE1, SCN2A, KCNQ2, MBD5, DCX, SIX3, PAFAH1B1, ADGRG1, KRIT1, CCM2, PDCD10, MAGI2, NRXN1, TCF4, CNTNAP2, FGD1, GRIA3, OPHN1, CASK, ZEB2, VPS13B, TBX1, SHANK2, SALL1, COL4A6, PAX3, EDNRB, SOX10, FGF3, GATA3, OTOA, MID1, FOXP2, FOXP1, EHMT1, PHF8, FTSJ1, SOX3, NSDHL, IL1RAPL1, MSX2, TWIST1, SOX9, TGIF1, ZIC2, GLI3, MITF, ACVRL1, DOCK8, NKX2-5, SH2D1A, NR5A1, KCNQ1OT1, LHX4, ALX4, SALL4, TBX5, EFNB1, F9, F8, ZIC3, MYCN, VLDLR, EXT2, XK, EDA, NFIA, MNX1, CCNQ, IRF6, ARSE, MAMLD1, PREPL, FLI1, GRIK2, STS, TRPS1, HDAC4, TBX3, YWHAE, FBXW4, IGF2, SEM1, CRK
Specificity
1 %
Genes
50 %
|
LESCH-NYHAN SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan Syndrome, Sequencing HPRT1 Gene.
By Reference Laboratory Genetics in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Lesch-Nyhan Syndrome, Deletions-Duplications (MLPA) HPRT1 Gene.
By Reference Laboratory Genetics in Spain.
HPRT1
Specificity
100 %
Genes
50 %
|
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.
By Reference Laboratory Genetics in Spain.
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)
View the complete list with 57 more genes
FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, RPL10, SNRPN, SLC9A9, DPP6, SOX5, SATB2, PDE10A, KLHL3, AUTS2, SLC6A4, BDNF
Specificity
2 %
Genes
50 %
|
HPRT-related hyperuricemia/gout.
By Labor Dr. Wisplinghoff in Germany.
HPRT1
Specificity
100 %
Genes
50 %
|