Panel Name, Specifity and genes Tested/covered |
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 %
|
Hearing Loss Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)
View the complete list with 151 more genes
ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, KARS, CISD2, MYO7A, TIMM8A, AIFM1, MANBA, ALMS1, SLC22A4, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, PMP22, FGFR1, COL4A4, BSND, SLC12A1, COL4A5, TBC1D24, NR2F1, KCNJ10, TBX1, SALL1, ACTB, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, RIPOR2, CEMIP, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2
Specificity
2 %
Genes
100 %
|
NGS Hearing Loss Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)
View the complete list with 71 more genes
USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, GIPC3, EDN3, CLPP, HGF, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, MT-TS1, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF
Specificity
3 %
Genes
100 %
|
Branchiootorenal Syndrome - EYA1 Sequencing & Del/Dup Analysis.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.
EYA1
Specificity
100 %
Genes
50 %
|
Test for EYA1-Related Branchiootorenal Spectrum Disorders.
By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.
EYA1
Specificity
100 %
Genes
50 %
|
OtoSCOPE.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.
USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)
View the complete list with 132 more genes
USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ALMS1, SLC22A4, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, MT-TL1, FGFR1, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, TBX1, ACTG1, ADCY1, BDP1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, TCOF1, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, MT-RNR1, GPSM2, CATSPER2, MITF, CRYL1, KITLG, LOXL3
Specificity
2 %
Genes
100 %
|
Hearing Loss Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)
View the complete list with 102 more genes
ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, COL9A1, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, NLRP3, DIAPH1, DNMT1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, DTD1, MYO1A, MASP1
Specificity
2 %
Genes
100 %
|
Anterior segment defects.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.
EYA1, PAX6, PITX3, FOXC1, PITX2, CYP1B1, PAX2, PORCN, LAMB2, COL4A1, FOXE3, B3GLCT, KERA
Specificity
8 %
Genes
50 %
|
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1 , (...)
View the complete list with 3 more genes
USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1, FOXI1, TMIE
Specificity
9 %
Genes
100 %
|
EYA1 sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal Spectrum Disorder Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
OtoSeq Hearing Loss Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1 , (...)
View the complete list with 2 more genes
USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1, FOXI1, TMIE
Specificity
10 %
Genes
100 %
|
EYA1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal Spectrum Disorder Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
OtoGenome Test for Hearing Loss (110 Genes).
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)
View the complete list with 90 more genes
USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, ALMS1, HARS2, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SNAI2, SERPINB6, SOX10, STRC, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, CD164, CDC14A, GSDME, ESRRB, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, MT-RNR1, GPSM2, CATSPER2, MITF, KITLG, SLC52A2, SLC52A3, CEP78
Specificity
2 %
Genes
100 %
|
ExomePLUS Cystic Disease & Dysplasia/Agenesis.
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
INVS, EYA1, WT1, HNF1B, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, GATA3, ACE, BMP4, ANKS6, FRAS1 , (...)
View the complete list with 2 more genes
INVS, EYA1, WT1, HNF1B, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, GATA3, ACE, BMP4, ANKS6, FRAS1, MUC1, REN
Specificity
5 %
Genes
50 %
|
EYA1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
EYA1. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
EYA1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
EYA1. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Branchio-oto-renal Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Branchio-oto-renal Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Branchio-oto-renal Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Craniofacial Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)
View the complete list with 23 more genes
RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3, WDR19, ALX4, EFNB1, EFTUD2, IFT43, EVC, EVC2, MYCN, IFT122, ALX1, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96, ALX3, SF3B4, MIR17HG, POLR1A, SNRPB, EDN1, PLCB4
Specificity
5 %
Genes
100 %
|
Audiome (hearing loss panel).
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)
View the complete list with 86 more genes
ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2, CISD2, MYO7A, TIMM8A, ALMS1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ATP6V1B2, ATP6V1B1, CIB2, CABP2, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC4A11, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, LRTOMT, LHFPL5, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, GRXCR2, GPSM2, MITF, SLC52A2, SLC52A3
Specificity
2 %
Genes
100 %
|
Craniofacial Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)
View the complete list with 23 more genes
RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3, WDR19, ALX4, EFNB1, EFTUD2, IFT43, EVC, EVC2, MYCN, IFT122, ALX1, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96, ALX3, SF3B4, MIR17HG, POLR1A, SNRPB, EDN1, PLCB4
Specificity
5 %
Genes
100 %
|
Craniofacial Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)
View the complete list with 23 more genes
RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3, WDR19, ALX4, EFNB1, EFTUD2, IFT43, EVC, EVC2, MYCN, IFT122, ALX1, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96, ALX3, SF3B4, MIR17HG, POLR1A, SNRPB, EDN1, PLCB4
Specificity
5 %
Genes
100 %
|
Syndromic deafness (NGS panel for 62 genes).
By CGC Genetics in Portugal.
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)
View the complete list with 42 more genes
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF
Specificity
4 %
Genes
100 %
|
Syndromic and non syndromic deafness (NGS panel for 127 genes).
By CGC Genetics in Portugal.
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)
View the complete list with 107 more genes
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, SLC12A1, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, POLR1C, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TFAP2A, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, GPSM2, MITF, MYO1A, TMC2
Specificity
2 %
Genes
100 %
|
Branchiootorenal syndrome 1 (sequence analysis of EYA1 gene).
By CGC Genetics in Portugal.
EYA1
Specificity
100 %
Genes
50 %
|
Cataracts (NGS panel for 41 genes).
By CGC Genetics in Portugal.
EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1 , (...)
View the complete list with 21 more genes
EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS
Specificity
3 %
Genes
50 %
|
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene).
By CGC Genetics in Portugal.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene).
By CGC Genetics in Portugal.
EYA1
Specificity
100 %
Genes
50 %
|
BRANCHIOOTORENAL SYNDROME 1.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.
EYA1
Specificity
100 %
Genes
50 %
|
Melnick-Fraser syndrome.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
EYA1
Specificity
100 %
Genes
50 %
|
EYA1-Related Branchiootorenal Spectrum Disorders.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome via the EYA1 Gene.
By PreventionGenetics PreventionGenetics in United States.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)
View the complete list with 29 more genes
EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4, GRIP1, FREM2, HOXA13, WNT4, FRAS1, LRP4, MUC1, REN, SRGAP1, LIFR, HPSE2, SOX17, AGT, ROBO2, PBX1, ITGA8, FGF20, TBX18, AGTR1, UPK3A, TRAP1, SIX2, BMP7, GREB1L, CDC5L, HOXB6, HOXA4, CHD1L, DSTYK
Specificity
5 %
Genes
100 %
|
Congenital Cataracts Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)
View the complete list with 20 more genes
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, MIR184
Specificity
3 %
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
100 %
|
Cataract.
By MGZ Medical Genetics Center in Germany.
EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)
View the complete list with 45 more genes
EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1, ERCC2, COL11A1, MYH9, MAF, FOXE3, LTBP2, ERCC6, RAB3GAP2, CTDP1, FTL, RAB18, VSX2, CRYBA4, EPG5, TBC1D20, COL18A1, ERCC5, FAM126A, COL4A2, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, ERCC1, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, CRYGS, MIR184, JAM3, TMEM114
Specificity
2 %
Genes
50 %
|
Eye Diseases - panels.
By MGZ Medical Genetics Center in Germany.
C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)
View the complete list with 147 more genes
C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, NHS, SHH, MFN2, CRYAB, OPA3, FBN1, MTPAP, FYCO1, TMEM126A, PHOX2A, GJA3, STRA6, FRMD7, HCCS, BCOR, CBS, GALK1, CYP27A1, SIX6, CYP4V2, SOX2, HESX1, MYOC, KIF21A, FZD4, COL5A1, COL5A2, KRT3, PAX2, GSN, CHD7, GLA, ADAMTS2, SLC33A1, SIL1, COL4A1, RAB3GAP1, SIX3, TUBB2B, TREX1, VPS13B, ACTB, ACTG1, COL9A1, COL9A3, ERCC2, COL9A2, COL11A1, COL11A2, SLC4A11, MYH9, TFAP2A, TGIF1, ZIC2, PRDM5, ZNF469, GDF6, SLC24A5, LRMDA, CHST6, MAF, FOXE3, LTBP2, ERCC6, RAB3GAP2, CTDP1, GJA1, FTL, RAB18, RARB, VAX1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3, B3GLCT, COL17A1, EPG5, TBC1D20, GRIP1, FREM2, FRAS1, LRP2, C12orf57, COL18A1, ERCC5, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, ADAMTSL4, FAM126A, ADAMTS10, COL4A2, ASPH, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, ATOH7, ERCC1, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, MAB21L2, SMOC1, SLC38A8, MIR184, HMX1, BMP7, AGBL1, ADAMTS17, JAM3, NDUFB11, TMEM114, SALL2, SIPA1L3, TMEM98, OVOL2
Specificity
1 %
Genes
50 %
|
Nephrology Endocrinology and Electrolytes - panels.
By MGZ Medical Genetics Center in Germany.
VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)
View the complete list with 97 more genes
VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, GRHPR, ABCC8, PKHD1, WNK1, CEL, KCNJ11, CASR, ANOS1, INS, PDX1, HNF4A, INF2, UMOD, COL4A4, LAMB2, SLC12A3, ACTN4, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, KCNJ10, OFD1, SALL1, SIX5, SIX1, GATA3, MYH9, CLCNKA, ACTA2, ACE, CD2AP, NOD2, DGKE, APOL1, KLHL3, ZIC3, GREM1, PAX4, KLF11, BLK, FREM1, BMP4, COQ8B, ITGA3, SMARCAL1, HOGA1, PRKCSH, APPL1, GRIP1, FREM2, WNT4, FRAS1, CRB2, MUC1, REN, PAX8, CLCN5, MYO1E, CUL3, WNK4, SEC63, SLC7A9, LRIG2, ETV5, HPSE2, SOX17, AGT, ARHGDIA, ROBO2, BICC1, CHRM3, EMP2, PTPRO, ITGA8, FGF20, ANLN, AGTR1, UPK3A, TRAP1, SIX2, BMP7, CDC5L, CHD1L, DSTYK, DACH1, UPK2
Specificity
2 %
Genes
100 %
|
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.
By MGZ Medical Genetics Center in Germany.
EYA1, PAX6, FOXC1, PITX2, CYP1B1, MYOC, COL4A1, FOXE3, LTBP2, B3GLCT, COL4A2, ASPH, SLC38A8, MIR184
Specificity
8 %
Genes
50 %
|
EYA1-Related Branchiootorenal Spectrum Disorders.
By Bioscientia GmbH Center for Human Genetics in Germany.
EYA1
Specificity
100 %
Genes
50 %
|
EYA1.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
EYA1
Specificity
100 %
Genes
50 %
|
Otofaciocervical syndrome.
By Centogene AG - the Rare Disease Company in Germany.
EYA1
Specificity
100 %
Genes
50 %
|
Cataract panel.
By Centogene AG - the Rare Disease Company in Germany.
EYA1, PAX6, PITX3, WFS1, FOXC1, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, MAF, FOXE3, CTDP1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)
View the complete list with 25 more genes
EYA1, PAX6, PITX3, WFS1, FOXC1, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, MAF, FOXE3, CTDP1, FTL, VSX2, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, CRYGS, SIPA1L3, LEMD2, LSS, UNC45B
Specificity
3 %
Genes
50 %
|
Otofaciocervical syndrome.
By Centogene AG - the Rare Disease Company in Germany.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome type 1.
By Centogene AG - the Rare Disease Company in Germany.
EYA1
Specificity
100 %
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
100 %
|
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
100 %
|
Syndromic Hearing Loss Panel.
By CeGaT GmbH in Germany.
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)
View the complete list with 42 more genes
ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF
Specificity
4 %
Genes
100 %
|
Renal Dysplasia, Renal Agenesia, CAKUT Panel.
By CeGaT GmbH in Germany.
EYA1, WT1, HNF1B, RET, FOXC1, NPHP3, PAX2, GATA2, SIX5, SIX1, GATA3, TFAP2A, SDCCAG8, FREM1, BMP4, GRIP1, FREM2, FRAS1, GDNF, SOX17 , (...)
View the complete list with 12 more genes
EYA1, WT1, HNF1B, RET, FOXC1, NPHP3, PAX2, GATA2, SIX5, SIX1, GATA3, TFAP2A, SDCCAG8, FREM1, BMP4, GRIP1, FREM2, FRAS1, GDNF, SOX17, ROBO2, BICC1, ITGA8, FGF20, TBX18, UPK3A, TRAP1, SPRY1, CHD1L, DSTYK, OSR1, ALDH1A2
Specificity
7 %
Genes
100 %
|
Branchiootorenal Syndrome Panel.
By CeGaT GmbH in Germany.
EYA1, SIX5, SIX1, TFAP2A
Specificity
50 %
Genes
100 %
|
Cataract Panel.
By CeGaT GmbH in Germany.
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7 , (...)
View the complete list with 21 more genes
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, SIPA1L3, LSS, CRYGA
Specificity
3 %
Genes
50 %
|
Cystic Kidney Disease Panel.
By CeGaT GmbH in Germany.
EYA1, HNF1B, PAX2, PKHD1, UMOD, PKD2, SIX5, MUC1, BICC1
Specificity
12 %
Genes
50 %
|
Branchiootorenal Syndrome.
By Asper Biogene Asper Biogene LLC in Estonia.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.
By Asper Biogene Asper Biogene LLC in Estonia.
RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)
View the complete list with 15 more genes
RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3, LTBP2, RARB, VAX1, VSX2, BMP4, GDF3, PRSS56, TENM3, ALDH1A3, B3GLCT, ASPH, HMGB3, MAB21L2, SMOC1, SLC38A8
Specificity
3 %
Genes
50 %
|
Cataract.
By Asper Biogene Asper Biogene LLC in Estonia.
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)
View the complete list with 24 more genes
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, SIPA1L3, LSS, UNC45B
Specificity
3 %
Genes
50 %
|
Branchiootorenal syndrome 1.
By Praxis fuer Humangenetik Wien in Austria.
EYA1
Specificity
100 %
Genes
50 %
|
Otofaciocervical syndrome.
By Praxis fuer Humangenetik Wien in Austria.
EYA1
Specificity
100 %
Genes
50 %
|
qChip.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)
View the complete list with 106 more genes
FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP, NPHP1, CEP290, SHH, MECP2, FBN1, RS1, OTC, HCCS, GK, TIMM8A, SOX2, LMX1B, ARX, BRAF, CDKL5, CHD7, DHCR7, KRAS, MAP2K1, PLP1, PTPN11, RAI1, RUNX2, SOS1, SRY, MAP2K2, TSC2, SMC1A, NIPBL, NSD1, PTCH1, NF2, BMPR1A, SMAD4, BTK, PMP22, SCN1A, MAPT, AHI1, NF1, NR0B1, SHOX, CASR, ANOS1, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, COL4A5, PKD1, DCX, EMX2, SIX3, RELN, PAFAH1B1, ADGRG1, OFD1, PAK3, ZEB2, SHANK3, SALL1, PAX3, GATA3, EHMT1, CLCNKA, SOX3, IL1RAPL1, TWIST1, SOX9, TGIF1, ZIC2, TGFBR1, TGFBR2, GLI3, SNRPN, MITF, TP63, NKX2-5, SH2D1A, NR5A1, LHX4, SALL4, TBX5, EP300, SATB2, VEGFA, ZIC3, GATA4, MYCN, DISP1, SIM1, MNX1, IRF6, MID2, LMNB1, HOXD13, STS, TRPS1, HDAC4, TBX3, FBXW11, TRAPPC10, CBFB, IGF2, SEM1
Specificity
1 %
Genes
50 %
|
qGenEx Craniofacial Anomalies.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)
View the complete list with 116 more genes
RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB
Specificity
2 %
Genes
100 %
|
Branchiootorenal syndrome 1.
By MedGene in Slovakia.
EYA1
Specificity
100 %
Genes
50 %
|
Otofaciocervical syndrome.
By MedGene in Slovakia.
EYA1
Specificity
100 %
Genes
50 %
|
Invitae Branchiootorenal Spectrum Disorders Panel.
By Invitae in United States.
EYA1, SIX1
Specificity
100 %
Genes
100 %
|
Branchiootorenal syndrome: EYA1 gene deletions-duplications analysis (MLPA).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome: EYA1 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Hearing Loss: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)
View the complete list with 111 more genes
ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ABHD5, ALMS1, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, SALL1, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, P2RX2, SIX5, SLC17A8, SERPINB6, SOX10, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, CEACAM16, OTOGL, TMEM132E, ELMOD3, SYNE4, GRXCR2, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, MYO1A, MASP1
Specificity
2 %
Genes
100 %
|
Hearing Loss: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)
View the complete list with 71 more genes
ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, DNMT1, KCNQ4, SLC17A8, SERPINB6, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, RPS6KA3, GPSM2, SALL4, SLC29A3, MYO1A, MASP1
Specificity
3 %
Genes
100 %
|
Hearing Loss NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)
View the complete list with 83 more genes
USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2, GJB6, POU3F4, PMP22, BSND, KCNJ10, ACTB, ACTG1, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, EDN3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, SLC4A11, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, ATP2B2, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, SPINK5, MTAP, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F
Specificity
2 %
Genes
100 %
|
EYA1.
By Fulgent Genetics Fulgent Genetics in United States.
EYA1
Specificity
100 %
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
100 %
|
Comprehensive Hearing Loss and Deafness Panel.
By Blueprint Genetics in Finland.
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)
View the complete list with 159 more genes
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, SUCLA2, MYO7A, TIMM8A, AIFM1, MANBA, MAN2B1, SUCLG1, ALMS1, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, MET, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, SLC33A1, TBC1D24, SPATA5, KCNJ10, SALL1, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, PEX26, RPS6KA3, GPSM2, MITF, SALL4, GJA1, DCAF17, SLC29A3, MGP, LRP2, SLC52A2, SLC52A3, CEP78, RMND1, FDXR, WBP2
Specificity
2 %
Genes
100 %
|
Branchio-Oto-Renal (BOR) Syndrome Panel.
By Blueprint Genetics in Finland.
EYA1, SIX5, SIX1, TFAP2A
Specificity
50 %
Genes
100 %
|
Renal Malformation Panel.
By Blueprint Genetics in Finland.
EYA1, WT1, HNF1B, RET, PAX2, SALL1, SIX5, SIX1, GATA3, FOXC2, FANCB, ACTG2, ACE, FREM1, BMP4, FREM2, CCNQ, REN, AGT, ROBO2 , (...)
View the complete list with 2 more genes
EYA1, WT1, HNF1B, RET, PAX2, SALL1, SIX5, SIX1, GATA3, FOXC2, FANCB, ACTG2, ACE, FREM1, BMP4, FREM2, CCNQ, REN, AGT, ROBO2, PBX1, DSTYK
Specificity
10 %
Genes
100 %
|
Cystic Kidney Disease Panel.
By Blueprint Genetics in Finland.
VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)
View the complete list with 20 more genes
VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1, OFD1, DCDC2, SIX5, WDR19, SDCCAG8, TTC21B, RPGRIP1L, NEK8, GLIS2, NOTCH2, IFT172, CEP164, ZNF423, CEP83, ANKS6, CRB2, DZIP1L, SEC61A1, GANAB, MAPKBP1
Specificity
3 %
Genes
50 %
|
Syndromic Hearing Loss Panel.
By Blueprint Genetics in Finland.
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)
View the complete list with 66 more genes
ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MYO7A, TIMM8A, MANBA, MAN2B1, ALMS1, HARS2, CHD7, CDKN1C, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, CLPP, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, DNMT1, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, LARS2, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, MYH9, PEX6, SEMA3E, TFAP2A, POLR1D, PEX26, MITF, GJA1, DCAF17, MGP, LRP2, SLC52A2, SLC52A3, FDXR
Specificity
3 %
Genes
100 %
|
Kabuki Syndrome Panel.
By Blueprint Genetics in Finland.
EYA1, CHD7, KMT2D, SIX5, KDM6A, IRF6, FLNB
Specificity
15 %
Genes
50 %
|
Cataract Panel.
By Blueprint Genetics in Finland.
RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)
View the complete list with 49 more genes
RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE, GALK1, CYP27A1, FZD4, NF2, SLC33A1, SIL1, COL4A1, RAB3GAP1, ERCC2, COL11A1, MYH9, TFAP2A, MAF, FOXE3, ERCC6, CTDP1, GJA1, FTL, VSX2, CRYBA4, ERCC8, WRN, COL18A1, ERCC5, ADAMTSL4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, ADAMTS18
Specificity
2 %
Genes
50 %
|
Otofaciocervical syndrome.
By Bioarray in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome.
By Bioarray in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome.
By Bioarray in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Cystic Disease and Nephronopthisis Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
INVS, EYA1, HNF1B, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PAX2, PKHD1, AHI1, UMOD, PKD2, PKD1, SIX5, TTC21B, RPGRIP1L, NEK8 , (...)
View the complete list with 3 more genes
INVS, EYA1, HNF1B, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PAX2, PKHD1, AHI1, UMOD, PKD2, PKD1, SIX5, TTC21B, RPGRIP1L, NEK8, GLIS2, CRB2, BICC1
Specificity
5 %
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 %
|
BOR SYNDROME (BRANCHIO-OTO-RENAL).
By Laboratorio de Genetica Clinica SL in Spain.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Branchio-Oto-Renal Syndrome Type 1, Sequencing EYA1 Gene.
By Reference Laboratory Genetics in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Otofaciocervical Syndrome , Sequencing EYA1 Gene.
By Reference Laboratory Genetics in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Branchio-Oto-Renal Syndrome Type 1, Deletions-Duplications (MLPA) EYA1 Gene.
By Reference Laboratory Genetics in Spain.
EYA1
Specificity
100 %
Genes
50 %
|
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes.
By Reference Laboratory Genetics in Spain.
EYA1, SIX5, SIX1
Specificity
67 %
Genes
100 %
|
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.
By Reference Laboratory Genetics in Spain.
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)
View the complete list with 20 more genes
EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, MIR184
Specificity
3 %
Genes
50 %
|
SIX1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
SIX1
Specificity
100 %
Genes
50 %
|
SIX1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
SIX1
Specificity
100 %
Genes
50 %
|
SIX1 Gene Sequencing.
By GeneDx in United States.
SIX1
Specificity
100 %
Genes
50 %
|
Deafness, autosomal dominant 23 (sequence analysis of SIX1 gene).
By CGC Genetics in Portugal.
SIX1
Specificity
100 %
Genes
50 %
|
Non syndromic deafness AD (NGS panel for 33 genes).
By CGC Genetics in Portugal.
EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)
View the complete list with 12 more genes
EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC, TMC1, GSDME, GJB3, MIR96, MYH14, MYH9, POU4F3, TJP2, DIAPH3, CEACAM16, MYO1A, TMC2
Specificity
4 %
Genes
50 %
|
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes).
By CGC Genetics in Portugal.
USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH , (...)
View the complete list with 59 more genes
USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, OTOG, DIAPH1, KCNQ4, ESPN, SLC17A8, SERPINB6, STRC, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, OTOGL, GPSM2, MYO1A, TMC2
Specificity
2 %
Genes
50 %
|
Branchiootorenal syndrome via the SIX1 Gene.
By PreventionGenetics PreventionGenetics in United States.
SIX1
Specificity
100 %
Genes
50 %
|
SIX1-Related Branchiootorenal Spectrum Disorders.
By Bioscientia GmbH Center for Human Genetics in Germany.
SIX1
Specificity
100 %
Genes
50 %
|
Deafness, autosomal dominant type 23.
By Centogene AG - the Rare Disease Company in Germany.
SIX1
Specificity
100 %
Genes
50 %
|
Sensorineural Hearing Loss.
By Asper Biogene Asper Biogene LLC in Estonia.
USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...)
View the complete list with 57 more genes
USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND, KCNJ10, ACTG1, ATP6V1B1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, KCNQ4, ESPN, SLC17A8, SERPINB6, STRC, MT-TS1, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SIX1, SMPX, TMC1, ATP2B2, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, GPSM2, MYO1A
Specificity
2 %
Genes
50 %
|
Branchiootorenal syndrome 3.
By Praxis fuer Humangenetik Wien in Austria.
SIX1
Specificity
100 %
Genes
50 %
|
Deafness, autosomal dominant 23.
By Praxis fuer Humangenetik Wien in Austria.
SIX1
Specificity
100 %
Genes
50 %
|
Branchiootorenal syndrome 3.
By MedGene in Slovakia.
SIX1
Specificity
100 %
Genes
50 %
|
Deafness, autosomal dominant 23.
By MedGene in Slovakia.
SIX1
Specificity
100 %
Genes
50 %
|
SIX1.
By Fulgent Genetics Fulgent Genetics in United States.
SIX1
Specificity
100 %
Genes
50 %
|
Non-Syndromic Hearing Loss Panel.
By Blueprint Genetics in Finland.
USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1 , (...)
View the complete list with 75 more genes
USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1, CIB2, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, PNPT1, OTOG, DIAPH1, DCDC2, KCNQ4, ESPN, P2RX2, SLC17A8, SERPINB6, STRC, TECTA, TMPRSS3, RIPOR2, PRPS1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, GSDME, ESRRB, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, GPSM2, WBP2
Specificity
2 %
Genes
50 %
|
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.
By Otogenetics in United States.
USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)
View the complete list with 109 more genes
USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3, GJB2, GJB6, POU3F4, PMP22, GJB1, MT-TL1, MT-TK, BSND, NR2F1, KCNJ10, ACTB, ACTG1, ATP6V1B2, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, STRC, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, CEMIP, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, MT-TI, MT-TH, MT-TQ, MT-TD, MT-TM, MT-TL2, FAS, SPINK5, GJB4, MTAP, ECE1, HAL, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F, OTOR, MIR182, TFCP2, MIR183
Specificity
1 %
Genes
50 %
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT).
By Laboratorio de Genetica Clinica SL in Spain.
WFS1, GJB2, GJB6, ACTG1, COCH, COL11A2, TECTA, SIX1, GJB3, MYH9
Specificity
10 %
Genes
50 %
|
Branchiootic Syndrome Type 3 , Sequencing SIX1 Gene.
By Reference Laboratory Genetics in Spain.
SIX1
Specificity
100 %
Genes
50 %
|
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes.
By Reference Laboratory Genetics in Spain.
EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)
View the complete list with 11 more genes
EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC, TMC1, GSDME, GJB3, MIR96, MYH14, MYH9, POU4F3, TJP2, CEACAM16, KITLG, MYO1A
Specificity
4 %
Genes
50 %
|