Unc119, C. Elegans, Homolog Of; Unc119

Description

Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.

Clinical Features

Phenotypes and symptoms related to Unc119, C. Elegans, Homolog Of; Unc119

  • Visual impairment
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Abnormality of retinal pigmentation
  • Abnormality of color vision
  • Neurofibromas

Incidence and onset information

— Based on the latest data available Unc119, C. Elegans, Homolog Of; Unc119 have a estimated prevalence of 2.5 per 100k worldwide.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Unc119, C. Elegans, Homolog Of; Unc119 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9 , (...)

View the complete list with 17 more genes
Specificity
65 %
Genes
86 %
Achromatopsia (ACHM) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
34 %
Genes
8 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
9 %
Genes
93 %
Achromatopsia Panel.

By CeGaT GmbH in Germany.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
34 %
Genes
8 %
Single gene testing ATF6.

By CeGaT GmbH in Germany.

ATF6
Specificity
100 %
Genes
4 %
Achromatopsia.

By Asper Biogene Asper Biogene LLC in Estonia.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
34 %
Genes
8 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
10 %
Genes
100 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory in United States.

CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C , (...)

View the complete list with 13 more genes
Specificity
73 %
Genes
86 %
Achromatopsia panel.

By Molecular Vision Laboratory in United States.

PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
34 %
Genes
8 %
ATF6.

By Fulgent Genetics Fulgent Genetics in United States.

ATF6
Specificity
100 %
Genes
4 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
10 %
Genes
90 %
Achromatopsia Panel.

By Blueprint Genetics in Finland.

RGS9BP, PDE6H, ATF6, CNGA3, RGS9, PDE6C, GNAT2, CNGB3
Specificity
25 %
Genes
8 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
4 %
Genes
72 %
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
4 %
RPGR Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
4 %
RPGR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
4 %
RPGR Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGR
Specificity
100 %
Genes
4 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
22 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
4 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...)

View the complete list with 72 more genes
Specificity
12 %
Genes
40 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...)

View the complete list with 73 more genes
Specificity
5 %
Genes
15 %
RPGR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RPGR
Specificity
100 %
Genes
4 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
4 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT , (...)

View the complete list with 33 more genes
Specificity
19 %
Genes
36 %
PCDNext.

By Ambry Genetics in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
4 %
RPGR mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RPGR
Specificity
100 %
Genes
4 %
RPGR. Sequencing of the exon ORF15.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPGR
Specificity
100 %
Genes
4 %
RPGR. Sequencing of the exons 1-15.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPGR
Specificity
100 %
Genes
4 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Primary Ciliary Dyskinesia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
4 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
4 %
Primary Ciliary Dyskinesia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
4 %
Cone-rod dystrophy, X-linked (sequence analysis of exon 15a of RPGR gene).

By CGC Genetics in Portugal.

RPGR
Specificity
100 %
Genes
4 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics in Portugal.

PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
64 %
Genes
83 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics in Portugal.

CDH3, IMPG1, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
29 %
Genes
15 %
Retinitis pigmentosa 3 (sequence analysis of RPGR gene).

By CGC Genetics in Portugal.

RPGR
Specificity
100 %
Genes
4 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2 , (...)

View the complete list with 52 more genes
Specificity
12 %
Genes
29 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1 , (...)

View the complete list with 33 more genes
Specificity
10 %
Genes
18 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics in Portugal.

PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX , (...)

View the complete list with 7 more genes
Specificity
15 %
Genes
15 %
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGR
Specificity
100 %
Genes
4 %
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

OFD1, RP2, RPGR, CHM
Specificity
25 %
Genes
4 %
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGR
Specificity
100 %
Genes
4 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5 , (...)

View the complete list with 60 more genes
Specificity
17 %
Genes
47 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4 , (...)

View the complete list with 2 more genes
Specificity
23 %
Genes
18 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...)

View the complete list with 15 more genes
Specificity
66 %
Genes
83 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
4 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
4 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
4 %
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region.

By PreventionGenetics PreventionGenetics in United States.

RPGR
Specificity
100 %
Genes
4 %
Retinitis pigmentosa type 3 X-linked.

By Centogene AG - the Rare Disease Company in Germany.

RPGR
Specificity
100 %
Genes
4 %
X-linked retinitis pigmentosa.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.

RPGR
Specificity
100 %
Genes
4 %
Primary Ciliary Dyskinesia Panel.

By CeGaT GmbH in Germany.

HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR , (...)

View the complete list with 10 more genes
Specificity
14 %
Genes
15 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 42 more genes
Specificity
10 %
Genes
22 %
Cone Rod Dystrophies Panel.

By CeGaT GmbH in Germany.

ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2 , (...)

View the complete list with 20 more genes
Specificity
56 %
Genes
79 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH in Germany.

CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4 , (...)

View the complete list with 2 more genes
Specificity
32 %
Genes
25 %
Single gene testing RPGR.

By CeGaT GmbH in Germany.

RPGR
Specificity
100 %
Genes
4 %
Autosomal Recessive Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1 , (...)

View the complete list with 36 more genes
Specificity
15 %
Genes
29 %
X-Linked Retinitis Pigmentosa (includes RPGR ORF15).

By Asper Biogene Asper Biogene LLC in Estonia.

OFD1, RP2, RPGR
Specificity
34 %
Genes
4 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
67 %
Genes
72 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
9 %
Genes
83 %
X-Linked RP Panel.

By Molecular Vision Laboratory in United States.

OFD1, RP2, RS1, RPGR, CHM
Specificity
20 %
Genes
4 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
9 %
Genes
86 %
VECMD.

By VECMD VECMD in Mexico.

RPGR
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 3.

By Praxis fuer Humangenetik Wien in Austria.

RPGR
Specificity
100 %
Genes
4 %
RPGR.

By Division Human Genetics Medical University Innsbruck in Austria.

RPGR
Specificity
100 %
Genes
4 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
2 %
Genes
15 %
Retinitis pigmentosa 3.

By MedGene in Slovakia.

RPGR
Specificity
100 %
Genes
4 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
4 %
Invitae Primary Ciliary Dyskinesia Panel.

By Invitae in United States.

DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Invitae Ciliopathies Panel.

By Invitae in United States.

WDR34, WDR60, NEK1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, CEP120, CEP104, IFT172, TCTN3, B9D2, IFT122, EVC2, EVC, ARL13B, GLIS2 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
4 %
Cone-Rod dystrophy type 1: RPGR gene sequence analysis (exons 1-15 and ORF15).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RPGR
Specificity
100 %
Genes
4 %
RETINITIS PIGMENTOSA A.R..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
15 %
STARGARDT SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
31 %
Genes
15 %
RETINITIS PIGMENTOSA A.D.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...)

View the complete list with 7 more genes
Specificity
19 %
Genes
18 %
RETINITIS PIGMENTOSA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...)

View the complete list with 37 more genes
Specificity
13 %
Genes
25 %
Cone rod dystrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
64 %
Genes
68 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RPGR
Specificity
100 %
Genes
4 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RPGR
Specificity
100 %
Genes
4 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
56 %
Genes
72 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
10 %
Genes
72 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, CDH3, EFEMP1, TIMP3, FSCN2, RDH12, GUCA1B, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
34 %
Genes
18 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS , (...)

View the complete list with 44 more genes
Specificity
16 %
Genes
36 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...)

View the complete list with 92 more genes
Specificity
5 %
Genes
18 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)

View the complete list with 100 more genes
Specificity
16 %
Genes
68 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
56 %
Genes
72 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 76 more genes
Specificity
6 %
Genes
18 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
10 %
Genes
72 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 75 more genes
Specificity
6 %
Genes
18 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
13 %
Genes
61 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5
Specificity
20 %
Genes
15 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...)

View the complete list with 68 more genes
Specificity
12 %
Genes
36 %
RPGR.

By Fulgent Genetics Fulgent Genetics in United States.

RPGR
Specificity
100 %
Genes
4 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...)

View the complete list with 140 more genes
Specificity
2 %
Genes
11 %
Primary Ciliary Dyskinesia Panel.

By Blueprint Genetics in Finland.

PIH1D3, HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
Macular Dystrophy Panel.

By Blueprint Genetics in Finland.

PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1 , (...)

View the complete list with 6 more genes
Specificity
27 %
Genes
25 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics in Finland.

ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9 , (...)

View the complete list with 22 more genes
Specificity
53 %
Genes
79 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...)

View the complete list with 90 more genes
Specificity
13 %
Genes
50 %
X-linked Retinitis pigmentosa.

By Bioarray in Spain.

RPGR
Specificity
100 %
Genes
4 %
RETINITIS PIGMENTOSA (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

RP2, RPGR
Specificity
50 %
Genes
4 %
Cone Rod Distrophy Type 1 , Sequencing RPGR Gene.

By Reference Laboratory Genetics in Spain.

RPGR
Specificity
100 %
Genes
4 %
Retinitis Pigmentosa, Sequencing RPGR Gene.

By Reference Laboratory Genetics in Spain.

RPGR
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy Type 1, Sequencing Exons (1-19) and ORF15 RPGR Gene.

By Reference Laboratory Genetics in Spain.

RPGR
Specificity
100 %
Genes
4 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
15 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.

By Reference Laboratory Genetics in Spain.

ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...)

View the complete list with 7 more genes
Specificity
19 %
Genes
18 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...)

View the complete list with 10 more genes
Specificity
64 %
Genes
68 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...)

View the complete list with 37 more genes
Specificity
13 %
Genes
25 %
Achromatopsia 2 - CNGA3 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

CNGA3
Specificity
100 %
Genes
4 %
Acromatopsia, CNGA3/CNGB3, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

CNGA3, CNGB3
Specificity
50 %
Genes
4 %
CNGA3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CNGA3
Specificity
100 %
Genes
4 %
CNGA3 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CNGA3
Specificity
100 %
Genes
4 %
CNGA3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CNGA3
Specificity
100 %
Genes
4 %
Achromatopsia 2 (sequence analysis of CNGA3 gene).

By CGC Genetics in Portugal.

CNGA3
Specificity
100 %
Genes
4 %
Achromatopsia (ACHM) via CNGA3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CNGA3
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1 , (...)

View the complete list with 8 more genes
Specificity
25 %
Genes
25 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
22 %
Genes
25 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
22 %
Genes
25 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
22 %
Genes
25 %
Achromatopsia type 2.

By Centogene AG - the Rare Disease Company in Germany.

CNGA3
Specificity
100 %
Genes
4 %
Single gene testing CNGA3.

By CeGaT GmbH in Germany.

CNGA3
Specificity
100 %
Genes
4 %
CNGA3-Achromatopsia 2.

By GGA - Galil Genetic Analysis in Israel.

CNGA3
Specificity
100 %
Genes
4 %
CNGA3 single gene sequencing.

By Molecular Vision Laboratory in United States.

CNGA3
Specificity
100 %
Genes
4 %
Achromatopsia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PDE6H, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
20 %
Genes
4 %
Achromatopsia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNGA3, PDE6C, GNAT2, CNGB3
Specificity
25 %
Genes
4 %
CNGA3.

By Fulgent Genetics Fulgent Genetics in United States.

CNGA3
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis Panel.

By Blueprint Genetics in Finland.

CWC27, DTHD1, NMNAT1, RDH5, ALMS1, BBS4, CNGA3, MYO7A, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65 , (...)

View the complete list with 6 more genes
Specificity
24 %
Genes
22 %
Achromatopsia type 2.

By Bioarray in Spain.

CNGA3
Specificity
100 %
Genes
4 %
ACHROMATOPSIA.

By Laboratorio de Genetica Clinica SL in Spain.

PDE6H, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
20 %
Genes
4 %
Achromatopsia Type 2 , Sequencing CNGA3 Gene.

By Reference Laboratory Genetics in Spain.

CNGA3
Specificity
100 %
Genes
4 %
Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PDE6H, CNGA3, PDE6C, GNAT2, CNGB3
Specificity
20 %
Genes
4 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GPR179, LRIT3, GNB3, RDH5, GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
7 %
Genes
4 %
CACNA1F.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CACNA1F
Specificity
100 %
Genes
4 %
CACNA1F mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CACNA1F
Specificity
100 %
Genes
4 %
Aland Island eye disease (sequence analysis of CACNA1F gene).

By CGC Genetics in Portugal.

CACNA1F
Specificity
100 %
Genes
4 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics in Portugal.

GPR179, LRIT3, GNB3, GRM6, NYX, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
8 %
Genes
4 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics in Portugal.

GPR179, LRIT3, GNB3, GRM6, NYX, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
8 %
Genes
4 %
Cone-rod Dystrophy (CORDX3) via the CACNA1F Gene.

By PreventionGenetics PreventionGenetics in United States.

CACNA1F
Specificity
100 %
Genes
4 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, RPE65, SAG, CACNA1F, CHM
Specificity
13 %
Genes
8 %
Night blindness, congenital stationary type 2A.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1F
Specificity
100 %
Genes
4 %
Aland Island eye disease.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1F
Specificity
100 %
Genes
4 %
Cone-rod dystrophy, X-linked type 3.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1F
Specificity
100 %
Genes
4 %
Congenital Stationary Night Blindness Panel.

By CeGaT GmbH in Germany.

RBP4, GPR179, LRIT3, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
14 %
Genes
8 %
Single gene testing CACNA1F.

By CeGaT GmbH in Germany.

CACNA1F
Specificity
100 %
Genes
4 %
Congenital Stationary Night Blindness.

By Asper Biogene Asper Biogene LLC in Estonia.

GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, PDE6B, RHO, SAG, CACNA1F
Specificity
10 %
Genes
4 %
Congenital Stationary Night Blindness panel.

By Molecular Vision Laboratory in United States.

GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
8 %
Genes
4 %
CACNA1F single gene sequencing.

By Molecular Vision Laboratory in United States.

CACNA1F
Specificity
100 %
Genes
4 %
Autism.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
4 %
Congenital Stationary Night Blindness: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
14 %
Genes
8 %
Congenital Stationary Night Blindness: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RBP4, GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
14 %
Genes
8 %
Cone-Rod Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNNM4, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGRIP1, CNGB3 , (...)

View the complete list with 4 more genes
Specificity
71 %
Genes
61 %
CACNA1F.

By Fulgent Genetics Fulgent Genetics in United States.

CACNA1F
Specificity
100 %
Genes
4 %
Congenital Stationary Night Blindness Panel.

By Blueprint Genetics in Finland.

GPR179, LRIT3, RDH5, CYP4V2, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, GRK1, PDE6B, RHO, RLBP1, RPE65, SAG, CACNA1F
Specificity
12 %
Genes
8 %
ALAND ISLAND EYE DISEASE (FORSIUS-ERIKSSON SYNDROME; OA2).

By Laboratorio de Genetica Clinica SL in Spain.

CACNA1F
Specificity
100 %
Genes
4 %
OCULAR ALBINISM (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

CACNA1F, GPR143
Specificity
50 %
Genes
4 %
NIGHT BLINDNESS, CONGENITAL STATIONARY (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

NYX, CACNA1F
Specificity
50 %
Genes
4 %
X-Linked Cone-Rod Distrophy Type 3, Sequencing CACNA1F Gene.

By Reference Laboratory Genetics in Spain.

CACNA1F
Specificity
100 %
Genes
4 %
Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

GPR179, RDH5, GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F
Specificity
8 %
Genes
4 %
C8ofr37 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

C8orf37
Specificity
100 %
Genes
4 %
C8ofr37 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

C8orf37
Specificity
100 %
Genes
4 %
C8orf37 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

C8orf37
Specificity
100 %
Genes
4 %
C8orf37 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

C8orf37
Specificity
100 %
Genes
4 %
Bardet-Biedl Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, C8orf37, TRIM32, TTC8, CEP290 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
C8orf37.

By Institute for Human Genetics University Clinic Freiburg in Germany.

C8orf37
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 64 (sequence analysis of C8ORF37 gene).

By CGC Genetics in Portugal.

C8orf37
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy and Retinitis Pigmentosa via C8orf37 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C8orf37
Specificity
100 %
Genes
4 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, RBP3, NR2E3, MAK, CLN3, PRPF31, EYS, LCA5, CERKL, FLVCR1, SEMA4A, PRCD, RD3, RDH12, LRAT , (...)

View the complete list with 39 more genes
Specificity
14 %
Genes
29 %
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IFT172, IFT74, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
Retinitis pigmentosa type 64, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

C8orf37
Specificity
100 %
Genes
4 %
Bardet-Biedl syndrome panel.

By Molecular Vision Laboratory in United States.

IFT172, SDCCAG8, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290, MKKS, NPHP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
4 %
C8ORF37 single gene sequencing.

By Molecular Vision Laboratory in United States.

C8orf37
Specificity
100 %
Genes
4 %
C8orf37.

By Fulgent Genetics Fulgent Genetics in United States.

C8orf37
Specificity
100 %
Genes
4 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
4 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...)

View the complete list with 79 more genes
Specificity
3 %
Genes
8 %
Bardet-Biedl Syndrome Panel.

By Blueprint Genetics in Finland.

IFT172, SDCCAG8, WDPCP, BBIP1, LZTFL1, PNPLA6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
4 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...)

View the complete list with 35 more genes
Specificity
6 %
Genes
11 %
Blue Cone Monochromacy Panel.

By Molecular Vision Laboratory in United States.

OPN1LW, OPN1MW
Specificity
100 %
Genes
8 %
OPN1LW.

By Fulgent Genetics Fulgent Genetics in United States.

OPN1LW
Specificity
100 %
Genes
4 %
PRPH2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
22 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP, PRPH2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
4 %
PRPH2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PRPH2
Specificity
100 %
Genes
4 %
Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

PRPH2, BEST1
Specificity
50 %
Genes
4 %
Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

PRPH2, BEST1
Specificity
50 %
Genes
4 %
Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
4 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
30 %
Genes
22 %
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

PRPH2, BEST1
Specificity
50 %
Genes
4 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
4 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
4 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
4 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
4 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EMC1, ROM1, PRPF3, NR2E3, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, TOPORS, SEMA4A, SNRNP200, KLHL7, NRL, GUCA1B, PRPF6, CRB1 , (...)

View the complete list with 9 more genes
Specificity
14 %
Genes
15 %
Flecked Retina Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G5, VPS13B, EFEMP1, RDH5, LRAT, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM
Specificity
24 %
Genes
11 %
Retinitis Pigmentosa via the PRPH2 (RDS) Gene.

By PreventionGenetics PreventionGenetics in United States.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

PRPH2
Specificity
100 %
Genes
4 %
Fundus albipunctatus.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
4 %
Macular dystrophy, vitelliform.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
4 %
Patterned dystrophy of retinal pigment epithelium.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
4 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
4 %
ALS panel.

By Centogene AG - the Rare Disease Company in Germany.

VPS54, VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
Choroidal dystrophy, central areolar type 2.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
4 %
Retinitis pigmentosa type 7, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
4 %
Macular dystrophy.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.

PRPH2
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

NMNAT1, RDH5, LCA5, IQCB1, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
30 %
Genes
22 %
Single gene testing PRPH2.

By CeGaT GmbH in Germany.

PRPH2
Specificity
100 %
Genes
4 %
Vitelliform Macular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

PRPH2, BEST1
Specificity
50 %
Genes
4 %
Autosomal Dominant Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ROM1, PRPF3, NR2E3, RP9, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO , (...)

View the complete list with 6 more genes
Specificity
16 %
Genes
15 %
Stargardt Panel.

By Molecular Vision Laboratory in United States.

CDH3, IMPG1, DRAM2, TTLL5, EFEMP1, TIMP3, IMPG2, RP1L1, PROM1, PRPH2, ABCA4, ELOVL4, BEST1
Specificity
39 %
Genes
18 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13 , (...)

View the complete list with 3 more genes
Specificity
27 %
Genes
22 %
Retinitis pigmentosa 7.

By Praxis fuer Humangenetik Wien in Austria.

PRPH2
Specificity
100 %
Genes
4 %
PRPH2.

By Division Human Genetics Medical University Innsbruck in Austria.

PRPH2
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 7.

By MedGene in Slovakia.

PRPH2
Specificity
100 %
Genes
4 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
32 %
Genes
22 %
Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRPH2
Specificity
100 %
Genes
4 %
Macular dystrophy:PRPH2 (RDS) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRPH2
Specificity
100 %
Genes
4 %
Flecked-retina Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PLA2G5, RDH5, RHO, RLBP1, PRPH2, ABCA4
Specificity
34 %
Genes
8 %
Flecked-retina Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PLA2G5, RDH5, RHO, RLBP1, PRPH2, ABCA4
Specificity
34 %
Genes
8 %
PRPH2.

By Fulgent Genetics Fulgent Genetics in United States.

PRPH2
Specificity
100 %
Genes
4 %
Flecked Retina Disorders Panel.

By Blueprint Genetics in Finland.

PLA2G5, VPS13B, RDH5, CYP4V2, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM
Specificity
25 %
Genes
11 %
Vitelliform macular dystrophy, adult-onset.

By Bioarray in Spain.

PRPH2
Specificity
100 %
Genes
4 %
FOVEOMACULAR VITELLIFORM DYSTROPHY.

By Laboratorio de Genetica Clinica SL in Spain.

PRPH2, BEST1
Specificity
50 %
Genes
4 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

PRPF3, PRPF31, IMPDH1, RHO, PRPH2, RP1
Specificity
17 %
Genes
4 %
RETINITIS PUNCTATA ALBESCENS.

By Laboratorio de Genetica Clinica SL in Spain.

RDH5, RHO, RLBP1, PRPH2
Specificity
25 %
Genes
4 %
Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
4 %
Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
4 %
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes.

By Reference Laboratory Genetics in Spain.

PRPH2, BEST1
Specificity
50 %
Genes
4 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PROM1, PRPH2, CNGB3, ABCA4, ELOVL4
Specificity
60 %
Genes
11 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1
Specificity
25 %
Genes
11 %
Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes.

By Reference Laboratory Genetics in Spain.

RDH5, RHO, RLBP1, PRPH2
Specificity
25 %
Genes
4 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, GUCA1B, PRPF6, CRX , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
11 %
Cone-rod dystrophy 14 (sequence analysis of GUCA1A gene).

By CGC Genetics in Portugal.

GUCA1A
Specificity
100 %
Genes
4 %
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GUCA1A
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 14.

By Centogene AG - the Rare Disease Company in Germany.

GUCA1A
Specificity
100 %
Genes
4 %
Single gene testing GUCA1A.

By CeGaT GmbH in Germany.

GUCA1A
Specificity
100 %
Genes
4 %
GUCA1A single gene sequencing.

By Molecular Vision Laboratory in United States.

GUCA1A
Specificity
100 %
Genes
4 %
Cone-Rod dystrophy type 14: GUCA1A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GUCA1A
Specificity
100 %
Genes
4 %
GUCA1A.

By Fulgent Genetics Fulgent Genetics in United States.

GUCA1A
Specificity
100 %
Genes
4 %
Cone dystrophy.

By Bioarray in Spain.

GUCA1A
Specificity
100 %
Genes
4 %
CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

GUCA1A, CRX, GUCY2D, AIPL1
Specificity
100 %
Genes
15 %
GUCY2D Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
4 %
GUCY2D Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
4 %
GUCY2D Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
4 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
27 %
Genes
18 %
GUCY2D.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GUCY2D
Specificity
100 %
Genes
4 %
GUCY2D Gene Sequencing.

By GeneDx in United States.

GUCY2D
Specificity
100 %
Genes
4 %
GUCY2D. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GUCY2D
Specificity
100 %
Genes
4 %
GUCY2D. Detection of the mutations in 837, 838 and 839 codons by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GUCY2D
Specificity
100 %
Genes
4 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CRX, GUCY2D, ABCA4
Specificity
100 %
Genes
11 %
Central areolar choroidal dystrophy (sequence analysis of GUCY2D gene).

By CGC Genetics in Portugal.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis 1 (sequence analysis of GUCY2D gene).

By CGC Genetics in Portugal.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes).

By CGC Genetics in Portugal.

RDH12, GUCY2D, RPGRIP1, CEP290
Specificity
50 %
Genes
8 %
Cone-Rod Dystrophy 6.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GUCY2D
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via GUCY2D Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GUCY2D
Specificity
100 %
Genes
4 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO , (...)

View the complete list with 11 more genes
Specificity
17 %
Genes
18 %
GUCY2D-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis type 1.

By Centogene AG - the Rare Disease Company in Germany.

GUCY2D
Specificity
100 %
Genes
4 %
Single gene testing GUCY2D.

By CeGaT GmbH in Germany.

GUCY2D
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis.

By Asper Biogene Asper Biogene LLC in Estonia.

GDF6, NMNAT1, LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
30 %
Genes
18 %
GUCY2D single gene sequencing.

By Molecular Vision Laboratory in United States.

GUCY2D
Specificity
100 %
Genes
4 %
Cone-rod dystrophy 6.

By Praxis fuer Humangenetik Wien in Austria.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis 1.

By Praxis fuer Humangenetik Wien in Austria.

GUCY2D
Specificity
100 %
Genes
4 %
GUCY2D.

By Division Human Genetics Medical University Innsbruck in Austria.

GUCY2D
Specificity
100 %
Genes
4 %
Cone-rod dystrophy 6.

By MedGene in Slovakia.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis 1.

By MedGene in Slovakia.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis 1: GUCY2D gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GUCY2D
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
30 %
Genes
18 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
23 %
Genes
15 %
GUCY2D.

By Fulgent Genetics Fulgent Genetics in United States.

GUCY2D
Specificity
100 %
Genes
4 %
Leber congenital amaurosis type 1.

By Bioarray in Spain.

GUCY2D
Specificity
100 %
Genes
4 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
8 %
LEBER CONGENITAL AMAUROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
27 %
Genes
15 %
Leber Congenital Amaurosis Type 1, Sequencing GUCY2D Gene.

By Reference Laboratory Genetics in Spain.

GUCY2D
Specificity
100 %
Genes
4 %
Cone Rod Distrophy Type 6 , Sequencing GUCY2D Gene.

By Reference Laboratory Genetics in Spain.

GUCY2D
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1
Specificity
30 %
Genes
18 %
Retinal cone dystrophy 4 (sequence analysis of CACNA2D4 gene).

By CGC Genetics in Portugal.

CACNA2D4
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy via the CACNA2D4 Gene.

By PreventionGenetics PreventionGenetics in United States.

CACNA2D4
Specificity
100 %
Genes
4 %
Retinal cone dystrophy type 4.

By Centogene AG - the Rare Disease Company in Germany.

CACNA2D4
Specificity
100 %
Genes
4 %
Ashkenazi Jewish Panel.

By Molecular Vision Laboratory in United States.

MAK, LCA5, CACNA2D4, TRPM1, FAM161A, DHDDS, PCDH15, CLRN1
Specificity
13 %
Genes
4 %
CACNA2D4 single gene sequencing.

By Molecular Vision Laboratory in United States.

CACNA2D4
Specificity
100 %
Genes
4 %
CACNA2D4.

By Fulgent Genetics Fulgent Genetics in United States.

CACNA2D4
Specificity
100 %
Genes
4 %
SEMA4A Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SEMA4A
Specificity
100 %
Genes
4 %
SEMA4A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SEMA4A
Specificity
100 %
Genes
4 %
SEMA4A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SEMA4A
Specificity
100 %
Genes
4 %
SEMA4A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SEMA4A
Specificity
100 %
Genes
4 %
SEMA4A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SEMA4A
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 35 (sequence analysis of SEMA4A gene).

By CGC Genetics in Portugal.

SEMA4A
Specificity
100 %
Genes
4 %
Retinitis Pigmentosa 35 (RP35) and Cone-rod dystrophy 10 (CORD10) via the SEMA4A Gene.

By PreventionGenetics PreventionGenetics in United States.

SEMA4A
Specificity
100 %
Genes
4 %
SEMA4A-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

SEMA4A
Specificity
100 %
Genes
4 %
Retinitis pigmentosa type 35, autosomal dominant/recessive.

By Centogene AG - the Rare Disease Company in Germany.

SEMA4A
Specificity
100 %
Genes
4 %
SEMA4A.

By Fulgent Genetics Fulgent Genetics in United States.

SEMA4A
Specificity
100 %
Genes
4 %
Cone-rod dystrophy (sequence analysis of UNC119 gene).

By CGC Genetics in Portugal.

UNC119
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy via UNC119 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UNC119
Specificity
100 %
Genes
4 %
Cone-rod dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

UNC119
Specificity
100 %
Genes
4 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
4 %
UNC119.

By Fulgent Genetics Fulgent Genetics in United States.

UNC119
Specificity
100 %
Genes
4 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
4 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
4 %
NMNAT1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1
Specificity
100 %
Genes
4 %
NMNAT1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1
Specificity
100 %
Genes
4 %
NMNAT1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1
Specificity
100 %
Genes
4 %
NMNAT1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NMNAT1
Specificity
100 %
Genes
4 %
Leber congenital amaurosis 9 (LCA9, sequence analysis of NMNAT1 gene).

By CGC Genetics in Portugal.

NMNAT1
Specificity
100 %
Genes
4 %
Leber congenital amaurosis type 9.

By Centogene AG - the Rare Disease Company in Germany.

NMNAT1
Specificity
100 %
Genes
4 %
NMNAT1.

By Fulgent Genetics Fulgent Genetics in United States.

NMNAT1
Specificity
100 %
Genes
4 %
CRX Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
4 %
CRX Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
4 %
CRX Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
4 %
CRX Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CRX
Specificity
100 %
Genes
4 %
CRX.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CRX
Specificity
100 %
Genes
4 %
GUCA1A Gene Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
4 %
CRX Gene Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
4 %
GUCY2D Select Exons Sequencing.

By GeneDx in United States.

CRX
Specificity
100 %
Genes
4 %
CRX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CRX
Specificity
100 %
Genes
4 %
Leber congenital amaurosis 7 (sequence analysis of CRX gene).

By CGC Genetics in Portugal.

CRX
Specificity
100 %
Genes
4 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

LCA5, CRB1, CRX, RPE65, AIPL1
Specificity
40 %
Genes
8 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes).

By CGC Genetics in Portugal.

LCA5, CRB1, CRX, RPE65, AIPL1
Specificity
40 %
Genes
8 %
Leber Congenital Amaurosis via the CRX Gene.

By PreventionGenetics PreventionGenetics in United States.

CRX
Specificity
100 %
Genes
4 %
CRX-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

CRX
Specificity
100 %
Genes
4 %
Leber congenital amaurosis type 7.

By Centogene AG - the Rare Disease Company in Germany.

CRX
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 2.

By Centogene AG - the Rare Disease Company in Germany.

CRX
Specificity
100 %
Genes
4 %
Single gene testing CRX.

By CeGaT GmbH in Germany.

CRX
Specificity
100 %
Genes
4 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
4 %
CRX single gene sequencing.

By Molecular Vision Laboratory in United States.

CRX
Specificity
100 %
Genes
4 %
Cone-Rod dystrophy type 2 (Leber congenital amaurosis): CRX gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CRX
Specificity
100 %
Genes
4 %
CRX.

By Fulgent Genetics Fulgent Genetics in United States.

CRX
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy Type 2 , Sequencing CRX Gene.

By Reference Laboratory Genetics in Spain.

CRX
Specificity
100 %
Genes
4 %
RPGRIP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
4 %
RPGRIP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
4 %
RPGRIP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
4 %
RPGRIP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RPGRIP1
Specificity
100 %
Genes
4 %
RPGRIP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RPGRIP1
Specificity
100 %
Genes
4 %
Leber congenital amaurosis type 6 (sequence analysis of RPGRIP1 gene).

By CGC Genetics in Portugal.

RPGRIP1
Specificity
100 %
Genes
4 %
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGRIP1
Specificity
100 %
Genes
4 %
RPGRIP1-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPGRIP1
Specificity
100 %
Genes
4 %
Leber congenital amaurosis type 6.

By Centogene AG - the Rare Disease Company in Germany.

RPGRIP1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 13.

By Centogene AG - the Rare Disease Company in Germany.

RPGRIP1
Specificity
100 %
Genes
4 %
Glaucoma.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OLFM2, LOXL1, NTF4, OPTC, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
4 %
Glaucoma (Advance).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
RPGRIP1.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1
Specificity
100 %
Genes
4 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

LOXL1, NTF4, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
4 %
AIPL1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

AIPL1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy (sequence analysis of AIPL1 gene).

By CGC Genetics in Portugal.

AIPL1
Specificity
100 %
Genes
4 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene).

By CGC Genetics in Portugal.

AIPL1
Specificity
100 %
Genes
4 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene).

By CGC Genetics in Portugal.

AIPL1
Specificity
100 %
Genes
4 %
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

AIPL1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

AIPL1
Specificity
100 %
Genes
4 %
Single gene testing AIPL1.

By CeGaT GmbH in Germany.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1 single-gene sequencing .

By Molecular Vision Laboratory in United States.

AIPL1
Specificity
100 %
Genes
4 %
AIPL1.

By Fulgent Genetics Fulgent Genetics in United States.

AIPL1
Specificity
100 %
Genes
4 %
PROM1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PROM1
Specificity
100 %
Genes
4 %
PROM1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PROM1
Specificity
100 %
Genes
4 %
PROM1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PROM1
Specificity
100 %
Genes
4 %
PROM1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PROM1
Specificity
100 %
Genes
4 %
PROM1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PROM1
Specificity
100 %
Genes
4 %
PROM1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PROM1
Specificity
100 %
Genes
4 %
Stargardt disease 4 (sequence analysis of PROM1 gene).

By CGC Genetics in Portugal.

PROM1
Specificity
100 %
Genes
4 %
'Bull's Eye' Macular Dystrophy (BEM), Cone-rod dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PROM1
Specificity
100 %
Genes
4 %
PROM1-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

PROM1
Specificity
100 %
Genes
4 %
Macular dystrophy retinal type 2.

By Centogene AG - the Rare Disease Company in Germany.

PROM1
Specificity
100 %
Genes
4 %
Retinitis pigmentosa type 41, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

PROM1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 12.

By Centogene AG - the Rare Disease Company in Germany.

PROM1
Specificity
100 %
Genes
4 %
Stargardt Disease type 4.

By Centogene AG - the Rare Disease Company in Germany.

PROM1
Specificity
100 %
Genes
4 %
Single gene testing PROM1.

By CeGaT GmbH in Germany.

PROM1
Specificity
100 %
Genes
4 %
Stargardt Disease, Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

PROM1, CNGB3, ABCA4, ELOVL4
Specificity
50 %
Genes
8 %
PROM1.

By Fulgent Genetics Fulgent Genetics in United States.

PROM1
Specificity
100 %
Genes
4 %
Best macular dystrophy.

By Bioarray in Spain.

PROM1
Specificity
100 %
Genes
4 %
STARGARDT DISEASE TYPE 4.

By Laboratorio de Genetica Clinica SL in Spain.

PROM1
Specificity
100 %
Genes
4 %
Stargardt Disease Type 4 , Sequencing PROM1 Gene.

By Reference Laboratory Genetics in Spain.

PROM1
Specificity
100 %
Genes
4 %
CDHR1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CDHR1
Specificity
100 %
Genes
4 %
CDHR1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CDHR1
Specificity
100 %
Genes
4 %
CDHR1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CDHR1
Specificity
100 %
Genes
4 %
CDHR1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CDHR1
Specificity
100 %
Genes
4 %
CDHR1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CDHR1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy 15 (sequence analysis of CDHR1 gene).

By CGC Genetics in Portugal.

CDHR1
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy via the CDHR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

CDHR1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 15.

By Centogene AG - the Rare Disease Company in Germany.

CDHR1
Specificity
100 %
Genes
4 %
Single gene testing CDHR1.

By CeGaT GmbH in Germany.

CDHR1
Specificity
100 %
Genes
4 %
CDHR1 single gene sequencing.

By Molecular Vision Laboratory in United States.

CDHR1
Specificity
100 %
Genes
4 %
CDHR1.

By Fulgent Genetics Fulgent Genetics in United States.

CDHR1
Specificity
100 %
Genes
4 %
Cone-Rod Distrophy Type 15 , Sequencing CDHR1 Gene.

By Reference Laboratory Genetics in Spain.

CDHR1
Specificity
100 %
Genes
4 %
ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt, arRP, Age-Related Macular Degeneration, CORD3 - ABCA4 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4. Genotyping array (558 mutations).

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4. MLPA testing (Salsa P152).

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4. MLPA testing (Salsa P151).

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt disease type 1 (deletion/duplication analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt disease type 1 (sequence analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
4 %
Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene).

By CGC Genetics in Portugal.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt disease (STGD), Fundus flavimaculatus (FFM) or Retinal dystrophy, early-onset severe via the ABCA4 gene.

By PreventionGenetics PreventionGenetics in United States.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

ABCA4
Specificity
100 %
Genes
4 %
Retinitis pigmentosa type 19, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
4 %
Retinal dystrophy, early-onset severe.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
4 %
Retinitis pigmentosa type 19, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 3.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt Disease type 1.

By Centogene AG - the Rare Disease Company in Germany.

ABCA4
Specificity
100 %
Genes
4 %
Single gene testing ABCA4.

By CeGaT GmbH in Germany.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4-Related Retinitis Pigmentosa.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4-Related Stargardt Disease 1.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4 single-gene sequencing.

By Molecular Vision Laboratory in United States.

ABCA4
Specificity
100 %
Genes
4 %
Cone-Rod dystrophy type 3 (Stargardt disease): ABCA4 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABCA4
Specificity
100 %
Genes
4 %
ABCA4.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt disease.

By Bioarray in Spain.

ABCA4
Specificity
100 %
Genes
4 %
CONE-ROD DYSTROPHY (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

ABCA4
Specificity
100 %
Genes
4 %
STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS).

By Laboratorio de Genetica Clinica SL in Spain.

CNGB3, ABCA4
Specificity
50 %
Genes
4 %
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

EYS, CERKL, PDE6A, CRB1, PDE6B, RPE65, SAG, USH2A, ABCA4
Specificity
12 %
Genes
4 %
Stargardt Disease Type 1 , Sequencing ABCA4 Gene.

By Reference Laboratory Genetics in Spain.

ABCA4
Specificity
100 %
Genes
4 %
Cone Rod Distrophy Type 3 , Sequencing ABCA4 Gene.

By Reference Laboratory Genetics in Spain.

ABCA4
Specificity
100 %
Genes
4 %
Stargardt Disease Type 1 , Deletions-Duplications (MLPA) ABCA4 Gene.

By Reference Laboratory Genetics in Spain.

ABCA4
Specificity
100 %
Genes
4 %
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

CX3CR1, C9, ARMS2, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, ABCA4, FBLN5
Specificity
14 %
Genes
8 %
Cone-rod dystrophy 5 (sequence analysis of PITPNM3 gene).

By CGC Genetics in Portugal.

PITPNM3
Specificity
100 %
Genes
4 %
Cone-rod Dystrophy via the PITPNM3 Gene.

By PreventionGenetics PreventionGenetics in United States.

PITPNM3
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 5.

By Centogene AG - the Rare Disease Company in Germany.

PITPNM3
Specificity
100 %
Genes
4 %
PITPNM3.

By Fulgent Genetics Fulgent Genetics in United States.

PITPNM3
Specificity
100 %
Genes
4 %
Cone-rod dystrophy 7 (sequence analysis of RIMS1 gene).

By CGC Genetics in Portugal.

RIMS1
Specificity
100 %
Genes
4 %
Autosomal Dominant Cone-rod Dystrophy via the RIMS1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RIMS1
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 7.

By Centogene AG - the Rare Disease Company in Germany.

RIMS1
Specificity
100 %
Genes
4 %
RIMS1.

By Fulgent Genetics Fulgent Genetics in United States.

RIMS1
Specificity
100 %
Genes
4 %
RAB28.

By Fulgent Genetics Fulgent Genetics in United States.

RAB28
Specificity
100 %
Genes
4 %
ADAM9.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ADAM9
Specificity
100 %
Genes
4 %
Cone-rod dystrophy 9 (sequence analysis of ADAM9 gene).

By CGC Genetics in Portugal.

ADAM9
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy via the ADAM9 Gene.

By PreventionGenetics PreventionGenetics in United States.

ADAM9
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 9.

By Centogene AG - the Rare Disease Company in Germany.

ADAM9
Specificity
100 %
Genes
4 %
ADAM9 single-gene sequencing .

By Molecular Vision Laboratory in United States.

ADAM9
Specificity
100 %
Genes
4 %
ADAM9.

By Fulgent Genetics Fulgent Genetics in United States.

ADAM9
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy via DRAM2Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DRAM2
Specificity
100 %
Genes
4 %
DRAM2.

By Fulgent Genetics Fulgent Genetics in United States.

DRAM2
Specificity
100 %
Genes
4 %
TTLL5.

By Fulgent Genetics Fulgent Genetics in United States.

TTLL5
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy 20 via POC1B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POC1B
Specificity
100 %
Genes
4 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
4 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
4 %
Cone-rod dystrophy type 20.

By Centogene AG - the Rare Disease Company in Germany.

POC1B
Specificity
100 %
Genes
4 %
POC1B.

By Fulgent Genetics Fulgent Genetics in United States.

POC1B
Specificity
100 %
Genes
4 %
RAX2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RAX2
Specificity
100 %
Genes
4 %
Cone-rod dystrophy 11 (sequence analysis of RAX2 gene).

By CGC Genetics in Portugal.

RAX2
Specificity
100 %
Genes
4 %
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAX2
Specificity
100 %
Genes
4 %
Macular degeneration, age-related type 6.

By Centogene AG - the Rare Disease Company in Germany.

RAX2
Specificity
100 %
Genes
4 %
Cone-rod dystrophy type 11.

By Centogene AG - the Rare Disease Company in Germany.

RAX2
Specificity
100 %
Genes
4 %
RAX2.

By Fulgent Genetics Fulgent Genetics in United States.

RAX2
Specificity
100 %
Genes
4 %

Alternate names

Unc119, C. Elegans, Homolog Of; Unc119 Is also known as human retinal gene 4;hrg4;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PAPILLOMA OF CHOROID PLEXUS; CPP

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more