Branchiootorenal Syndrome 1; Bor1

Description

Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). Genetic Heterogeneity of Branchiootorenal SyndromeSee also BOR2 (OMIM ), caused by mutation in the SIX5 gene (OMIM ) on chromosome 19q13. Sanchez-Valle et al. (2010) stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene.See also branchiootic (BO) syndrome-1 (BOS1 ) and the otofaciocervical syndrome (OFC ), allelic disorders showing overlapping phenotypes but without renal anomalies. See also {600257} for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by Vincent et al. (1994).Although Melnick et al. (1978) maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, Cremers and Fikkers-van Noord (1980) concluded that the 2 syndromes are in fact a single entity.

Genes related to Branchiootorenal Syndrome 1; Bor1

SIX5
EYA1
SIX1

Clinical Features

Top most frequent phenotypes and symptoms related to Branchiootorenal Syndrome 1; Bor1

Pica
Hearing impairment
Sensorineural hearing impairment
Cleft palate
High palate
Myopia
Tics
Dysphagia
Renal insufficiency
Microphthalmia

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Branchiootorenal Syndrome 1; Bor1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel GTR000560763 complete gene list 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 %
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 Panel GTR000323596 complete gene list 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 Panel GTR000528548 complete gene list 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 3 % Genes 100 %
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 Panel GTR000500213 complete gene list USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1, FOXI1, TMIE Specificity 14 % Genes 100 %
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 100 % Genes 100 %
SIX5 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SIX5 Specificity 100 % Genes 34 %
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 Panel GTR000519426 complete gene list USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1, FOXI1, TMIE Specificity 14 % Genes 100 %
SIX5 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SIX5 Specificity 100 % Genes 34 %
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 100 % Genes 100 %
Branchio-oto-renal Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. EYA1, SIX5, SIX1 Specificity 100 % 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 100 % 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 100 % 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 Panel GTR000553455 complete gene list 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 7 % 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 Panel GTR000553472 complete gene list 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 7 % 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 Panel GTR000553492 complete gene list 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 7 % Genes 100 %
Branchiootorenal syndrome 2 (sequence analysis of SIX5 gene). By CGC Genetics in Portugal. SIX5 Specificity 100 % Genes 34 %
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 Panel GTR000523375 complete gene list 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 5 % 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 Panel GTR000523804 complete gene list 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 3 % Genes 100 %
Test for SIX5-Related Branchiootorenal Spectrum Disorders. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. SIX5 Specificity 100 % Genes 34 %
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SIX5 Specificity 100 % Genes 34 %
Branchiootorenal Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. EYA1, SIX5, SIX1 Specificity 100 % 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 Panel GTR000530716 complete gene list 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 7 % Genes 100 %
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 Panel GTR000558419 complete gene list 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 %
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 Panel GTR000552435 complete gene list 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 3 % Genes 100 %
SIX5-Related Branchiootorenal Spectrum Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. SIX5 Specificity 100 % Genes 34 %
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 Panel GTR000530427 complete gene list 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 Panel GTR000530428 complete gene list 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 Panel GTR000522364 complete gene list 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 5 % 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 Panel GTR000522445 complete gene list 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 10 % Genes 100 %
Branchiootorenal Syndrome Panel. By CeGaT GmbH in Germany. EYA1, SIX5, SIX1, TFAP2A Specificity 75 % Genes 100 %
Cystic Kidney Disease Panel. By CeGaT GmbH in Germany. EYA1, HNF1B, PAX2, PKHD1, UMOD, PKD2, SIX5, MUC1, BICC1 Specificity 23 % Genes 67 %
Branchiootorenal Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. EYA1, SIX5, SIX1 Specificity 100 % Genes 100 %
Branchiootorenal syndrome 2. By Praxis fuer Humangenetik Wien in Austria. SIX5 Specificity 100 % Genes 34 %
Branchiootorenal syndrome 2. By MedGene in Slovakia. SIX5 Specificity 100 % Genes 34 %
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 Panel GTR000512601 complete gene list 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 3 % Genes 100 %
SIX5. By Fulgent Genetics Fulgent Genetics in United States. SIX5 Specificity 100 % Genes 34 %
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 Panel GTR000528276 complete gene list 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 2 % 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 Panel GTR000552698 complete gene list 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 75 % 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 Panel GTR000552727 complete gene list EYA1, WT1, HNF1B, RET, PAX2, SALL1, SIX5, SIX1, GATA3, FOXC2, FANCB, ACTG2, ACE, FREM1, BMP4, FREM2, CCNQ, REN, AGT, ROBO2, PBX1, DSTYK Specificity 14 % 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 Panel GTR000552730 complete gene list 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 5 % Genes 67 %
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 Panel GTR000552639 complete gene list 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 4 % Genes 100 %
Kabuki Syndrome Panel. By Blueprint Genetics in Finland. EYA1, CHD7, KMT2D, SIX5, KDM6A, IRF6, FLNB Specificity 29 % Genes 67 %
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 Panel GTR000552013 complete gene list INVS, EYA1, HNF1B, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PAX2, PKHD1, AHI1, UMOD, PKD2, PKD1, SIX5, TTC21B, RPGRIP1L, NEK8, GLIS2, CRB2, BICC1 Specificity 9 % Genes 67 %
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 Panel GTR000552366 complete gene list 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 2 % Genes 67 %
BOR SYNDROME (BRANCHIO-OTO-RENAL). By Laboratorio de Genetica Clinica SL in Spain. EYA1, SIX5, SIX1 Specificity 100 % Genes 100 %
Branchio-Oto-Renal Syndrome Type 2 , Sequencing SIX5 Gene. By Reference Laboratory Genetics in Spain. SIX5 Specificity 100 % Genes 34 %
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes. By Reference Laboratory Genetics in Spain. EYA1, SIX5, SIX1 Specificity 100 % Genes 100 %
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 Panel GTR000508280 complete gene list 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 34 %
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 Panel GTR000548231 complete gene list 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 67 %
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 34 %
Test for EYA1-Related Branchiootorenal Spectrum Disorders. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. EYA1 Specificity 100 % Genes 34 %
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 34 %
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 34 %
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 34 %
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 Panel GTR000509148 complete gene list 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 67 %
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 Panel GTR000552070 complete gene list 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 34 %
EYA1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. EYA1 Specificity 100 % Genes 34 %
EYA1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. EYA1 Specificity 100 % Genes 34 %
EYA1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. EYA1 Specificity 100 % Genes 34 %
EYA1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000553458 complete gene list 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 67 %
Branchiootorenal syndrome 1 (sequence analysis of EYA1 gene). By CGC Genetics in Portugal. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000525170 complete gene list 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 34 %
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene). By CGC Genetics in Portugal. EYA1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene). By CGC Genetics in Portugal. EYA1 Specificity 100 % Genes 34 %
BRANCHIOOTORENAL SYNDROME 1. By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium. EYA1 Specificity 100 % Genes 34 %
Melnick-Fraser syndrome. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. EYA1 Specificity 100 % Genes 34 %
EYA1-Related Branchiootorenal Spectrum Disorders. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. EYA1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome via the EYA1 Gene. By PreventionGenetics PreventionGenetics in United States. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000527872 complete gene list 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 34 %
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 Panel GTR000521132 complete gene list 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 34 %
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 Panel GTR000552433 complete gene list 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 34 %
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 34 %
EYA1-Related Branchiootorenal Spectrum Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. EYA1 Specificity 100 % Genes 34 %
EYA1. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. EYA1 Specificity 100 % Genes 34 %
Otofaciocervical syndrome. By Centogene AG - the Rare Disease Company in Germany. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000506168 complete gene list 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 34 %
Otofaciocervical syndrome. By Centogene AG - the Rare Disease Company in Germany. EYA1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000522478 complete gene list 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 34 %
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 Panel GTR000553195 complete gene list 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 34 %
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 Panel GTR000553198 complete gene list 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 34 %
Branchiootorenal syndrome 1. By Praxis fuer Humangenetik Wien in Austria. EYA1 Specificity 100 % Genes 34 %
Otofaciocervical syndrome. By Praxis fuer Humangenetik Wien in Austria. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000521292 complete gene list 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 34 %
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 Panel GTR000552865 complete gene list 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 67 %
Branchiootorenal syndrome 1. By MedGene in Slovakia. EYA1 Specificity 100 % Genes 34 %
Otofaciocervical syndrome. By MedGene in Slovakia. EYA1 Specificity 100 % Genes 34 %
Invitae Branchiootorenal Spectrum Disorders Panel. By Invitae in United States. EYA1, SIX1 Specificity 100 % Genes 67 %
Branchiootorenal syndrome: EYA1 gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. EYA1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome: EYA1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000560677 complete gene list 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 67 %
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 Panel GTR000510709 complete gene list 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 67 %
EYA1. By Fulgent Genetics Fulgent Genetics in United States. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000552775 complete gene list 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 34 %
Otofaciocervical syndrome. By Bioarray in Spain. EYA1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome. By Bioarray in Spain. EYA1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome. By Bioarray in Spain. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000525320 complete gene list 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 34 %
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 Panel GTR000560671 complete gene list 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 34 %
Branchio-Oto-Renal Syndrome Type 1, Sequencing EYA1 Gene. By Reference Laboratory Genetics in Spain. EYA1 Specificity 100 % Genes 34 %
Otofaciocervical Syndrome , Sequencing EYA1 Gene. By Reference Laboratory Genetics in Spain. EYA1 Specificity 100 % Genes 34 %
Branchio-Oto-Renal Syndrome Type 1, Deletions-Duplications (MLPA) EYA1 Gene. By Reference Laboratory Genetics in Spain. EYA1 Specificity 100 % Genes 34 %
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 Panel GTR000559949 complete gene list 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 34 %
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 34 %
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 34 %
SIX1 Gene Sequencing. By GeneDx in United States. SIX1 Specificity 100 % Genes 34 %
Deafness, autosomal dominant 23 (sequence analysis of SIX1 gene). By CGC Genetics in Portugal. SIX1 Specificity 100 % Genes 34 %
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 Panel GTR000523503 complete gene list 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 34 %
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 Panel GTR000523911 complete gene list 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 34 %
Branchiootorenal syndrome via the SIX1 Gene. By PreventionGenetics PreventionGenetics in United States. SIX1 Specificity 100 % Genes 34 %
SIX1-Related Branchiootorenal Spectrum Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. SIX1 Specificity 100 % Genes 34 %
Deafness, autosomal dominant type 23. By Centogene AG - the Rare Disease Company in Germany. SIX1 Specificity 100 % Genes 34 %
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 Panel GTR000512701 complete gene list 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 34 %
Branchiootorenal syndrome 3. By Praxis fuer Humangenetik Wien in Austria. SIX1 Specificity 100 % Genes 34 %
Deafness, autosomal dominant 23. By Praxis fuer Humangenetik Wien in Austria. SIX1 Specificity 100 % Genes 34 %
Branchiootorenal syndrome 3. By MedGene in Slovakia. SIX1 Specificity 100 % Genes 34 %
Deafness, autosomal dominant 23. By MedGene in Slovakia. SIX1 Specificity 100 % Genes 34 %
SIX1. By Fulgent Genetics Fulgent Genetics in United States. SIX1 Specificity 100 % Genes 34 %
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 Panel GTR000552702 complete gene list 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 34 %
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 34 %
Branchiootic Syndrome Type 3 , Sequencing SIX1 Gene. By Reference Laboratory Genetics in Spain. SIX1 Specificity 100 % Genes 34 %
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 Panel GTR000559696 complete gene list 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 34 %

Alternate names

Branchiootorenal Syndrome 1; Bor1 Is also known as branchiootorenal dysplasia, melnick-fraser syndrome;branchiootorenal syndrome.

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