Overview
Full sequence analysis of genes listed include DNA sequencing in two directions of all coding exons and exon/intron boundaries. This test is designed to offer the most comprehensive coverage of known genes associated with inheritable retinal dystrophy, providing the highest clinical utility at an affordable price. It includes PCR amplification of the entire coding regions of both non-syndromic and syndromic genes associated with inherited retinal dystrophy including genes associated with RP, CRD, LCA, CSNB, Achromatopsia, USHER, Stargardt, Macular dystrophy, BBS, and more. This test is designed to be the first line tool to identify mutations for most patients. On average, our coverage is 97%. We gap fill by re-PCR and Sanger sequencing.
In cases where no mutations or a single mutation is identified, a tier 2 array CGH assay is recommended. View Tier 2 Array CGH Gene List.
Read more about our test methods.
| Gene | Associated Phenotypes |
| ABCA4 | Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus |
| ABCC6 | Recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum |
| ABCD1 | Adrenoleukodystrophy, X-Linked |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| ACBD5 | Recessive cone-rod dystrophy |
| ACO2 | Infantile cerebellar-retinal degeneration, optic atrophy 9 |
| ADAM9 | Cone rod dystrophy |
| ADAMTS18 | Recessive Knobloch syndrome, recessive retinal dystrophy |
| AHI1 | Joubert syndrome |
| AIPL1 | Retinitis pigmentosa, Cone rod dystrophy, Leber congenital amaurosis |
| ALMS1 | Alström syndrome |
| AMACR | Pigmentary retinopathy |
| ARL2BP | Recessive retinitis pigmentosa |
| ARL3 | Dominant retinitis pigmentosa |
| ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| ARL13B | Joubert syndrome |
| ATF6 | Achromatopsia |
| B9D1 | Meckel syndrome |
| B9D2 | Meckel syndrome |
| BBIP1 | Recessive Bardet-Biedl syndrome |
| BBS1 | Bardet-Biedl syndrome |
| BBS2 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| BBS4 | Bardet-Biedl syndrome |
| BBS5 | Bardet-Biedl syndrome |
| BBS7 | Bardet-Biedl syndrome |
| BBS9 | Bardet-Biedl syndrome |
| BBS10 | Bardet-Biedl syndrome |
| BBS12 | Bardet-Biedl syndrome |
| BEST1 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Vitreoretinochoroidopathy |
| C1QTNF5 | Dominant macular dystrophy, late onset; dominant macular dystrophy with lens zonules |
| C2ORF71 | Retinitis pigmentosa |
| C5ORF42 | Orofaciodigital syndrome, Joubert syndrome |
| C8ORF37 | Retinitis pigmentosa, Cone rod dystrophy |
| C12ORF65 | neuropathy and optic atrophy |
| C21ORF2 | recessive cone-rod dystrophy |
| CA4 | dominant retinitis pigmentosa |
| CABP4 | Night blindness, congenital stationary |
| CACNA1F | Aland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationary |
| CACNA2D4 | Retinal cone dystrophy |
| CC2D2A | COACH syndrome, Joubert syndrome, Meckel syndrome |
| CDH3 | recessive macular dystrophy |
| CDH23 | Deafness, Usher syndrome |
| CDHR1 | Retinitis pigmentosa, Cone rod dystrophy |
| CEP41 | Joubert syndrome |
| CEP164 | Nephronophthisis |
| CEP250 | recessive Usher syndrome |
| CEP290/BBS14 | Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome |
| CERKL | Retinitis pigmentosa |
| CFH | age-related macular degeneration, complex etiology; recessive drusen |
| CHM | Choroideremia |
| CIB2 | Deafness, Usher syndrome |
| CISD2 | Wolfram syndrome |
| CKAP4 | Interstitial Cystitis |
| CLN3 | Ceroid lipofuscinosis, neuronal |
| CLN5 | CLN5 Disease |
| CLN6 | CLN6 Disease |
| CLN8 | CLN8 Disease |
| CLN13 | Neuronal Ceroid Lipofuscinosis (adult) |
| CLN14 | Neuronal Ceroid Lipofuscinosis (infantile) |
| CLRN1 | Retinitis pigmentosa, Usher syndrome |
| CNGA1 | Retinitis pigmentosa |
| CNGA3 | Leber congenital amaurosis, Achromatopsia |
| CNGB1 | Retinitis pigmentosa |
| CNGB3 | Macular degeneration, juvenile, Achromatopsia |
| CNNM4 | Jalili syndrome |
| COH1 | Cohen Syndrome |
| CRB1 | Retinitis pigmentosa, Pigmented paravenous chorioretinal atrophy, Leber congenital amaurosis |
| CRX | Cone rod dystrophy, Leber congenital amaurosis |
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| CTNNA1 | dominant macular dystrophy |
| CTSD | neuronal ceroid lipofuscinosis |
| CYP4V2 | Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophy |
| DFNB31 | Deafness, Usher syndrome |
| DGKQ | retinopathy |
| DHDDS | Retinitis pigmentosa |
| DHX38 | recessive retinitis pigmentosa |
| DNAJC5 | autosomal dominant neuronal ceroid-lipofuscinoses |
| DRAM2 | recessive macular dystrophy |
| DTHD1 | Leber congenital amaurosis with muscle dystrophy |
| EFEMP1 | Doyne honeycomb degeneration of retina, Malattia leventinese |
| ELOVL4 | Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia |
| EMC1 | recessive retinitis pigmentosa |
| EYS | Retitinis pigmentosa |
| FAM161A | Retitinis pigmentosa |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa |
| FSCN2 | dominant retinitis pigmentosa; dominant macular dystrophy |
| FZD4 | Retinopathy of prematurity, Exudative vitreoretinopathy |
| GDF6 | recessive Leber congenital amaurosis |
| GJB2 | non-syndromic hearing loss |
| GJB6 | non-syndromic hearing loss |
| GNAT1 | Night blindness, congenital stationary |
| GNAT2 | Achromatopsia |
| GPR98 | recessive Usher syndrome |
| GPR125 | recessive retinitis pigmentosa |
| GPR179 | Night blindness, congenital stationary |
| GRK1 | Oguchi disease |
| GRM6 | Night blindness, congenital stationary |
| GRN | Neuronal Ceroid Lipofuscinoses |
| GUCA1A | Cone dystrophy 3/Cone rod dystrophy |
| GUCA1B | dominant retinitis pigmentosa; dominant macular dystrophy |
| GUCY2D | Cone rod dystrophy, Leber congenital amaurosis |
| HARS | Usher syndrome |
| HCN1 | Cone rod dystrophy |
| HGSNAT | recessive retinitis pigmentosa |
| HK1 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency |
| HMCN1 | dominant macular dystrophy |
| HMX1 | Oculoauricular syndrome |
| IDH3B | Retinitis pigmentosa |
| IFT27 | recessive Bardet-Biedl syndrome |
| IFT81 | ciliopathy |
| IFT140 | Short -rib thoracic dysplasia with or without polydactyly |
| IFT172 | Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| IMPDH1 | Retinitis pigmentosa, Leber congenital amaurosis |
| IMPG1 | Macular dystrophy, vitelliform |
| IMPG2 | Retinitis pigmentosa |
| INPP5E | Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome) |
| INVS | Nephronophthisis |
| IQCB1 | Senior-Loken syndrome |
| ITM2B | dominant retinal dystrophy |
| JAG1 | dominant Alagille syndrome |
| KCNJ13 | Snowflake vitreoretinal degeneration, Leber congenital amaurosis |
| KCNV2 | Retinal cone dystrophy |
| KIAA1549 | recessive retinitis pigmentosa |
| KIF7 | Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndrome |
| KIF11 | Microcephaly |
| KIZ | recessive retinitis pigmentosa |
| KLHL7 | Retinitis pigmentosa |
| LAMA1 | recessive retinal dystrophy |
| LCA5 | Leber congenital amaurosis |
| LRAT | Retinitis pigmentosa, juvenile, Leber congenital amaurosis, Retinitis punctata albescens, Retinal-dystrophy, early-onset severe |
| LRIT3 | Night blindness, congenital stationary |
| LRP5 | Osteopetrosis, van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy |
| LZTFL1 | recessive Bardet-Biedl syndrome with developmental anomalies |
| LHON | Leber hereditary optic neuropathy |
| MAK | Retinitis pigmentosa |
| MT-ND1 | MELAS |
| MT-ND5 | MELAS |
| MT-TH | MELAS |
| MT-TL1 | MELAS |
| MT-TV | MELAS |
| MERTK | Retinitis pigmentosa |
| MFN2 | dominant optic atrophy with neuropathy and myopathy; dominant Charcot-Marie-Tooth disease |
| MFRP | recessive microphthalmos and retinal disease syndrome |
| MFSD8 | recessive macular dystrophy |
| MIR204 | dominant retinal dystrophy with iris coloboma |
| MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| MMACHC | pigmentary retinopathy |
| MTTP | retinitis pigmentosa with deafness and neurological abnormalities |
| MVK | Mevalonic aciduria, Hyper-IgD syndrome |
| MYO7A | Deafness, Usher syndrome |
| NDP | Exudative vitreoretinopathy, Norrie disease |
| NEK2 | recessive retinitis pigmentosa |
| NEUROD1 | recessive retinitis pigmentosa |
| NMNAT1 | Leber congenital amaurosis |
| NPHP1 | Nephronophthisis, Joubert syndrome, Senior-Loken syndrome |
| NPHP3 | Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndrome |
| NPHP4 | Nephronophthisis, Senior-Loken syndrome |
| NR2E3 | Retinitis pigmentosa, Enhanced S-cone syndrome |
| NR2F1 | dominant optic atrophy with intellectual disability and developmental delay |
| NRL | Retinitis pigmentosa, Clumped pigmentary retinal degeneration |
| NYX | Night blindness, congenital stationary |
| OAT | Gyrate atrophy of choroid and retina |
| OFD1 | Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndrome |
| OPA1 | Glaucoma, normal tension |
| OPA3 | Optic atrophy, 3-methylglutaconic aciduria |
| OPN1LW | deuteranopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element |
| OPN1MW | protanopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element |
| OR2W3 | dominant retinitis pigmentosa |
| OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction |
| PANK2 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulation |
| PAX2 | dominant renal-coloboma syndrome |
| PCDH15 | Deafness, Usher syndrome |
| PDE6A | Retinitis pigmentosa |
| PDE6B | Retinitis pigmentosa, Night blindness, congenital stationary |
| PDE6C | Cone dystrophy |
| PDE6D | Joubert Syndrome 22 |
| PDE6G | Retinitis pigmentosa |
| PDE6H | Retinal cone dystrophy, Achromatopsia |
| PDZD7 | Usher syndrome |
| PEX1 | Heimler syndrome |
| PEX2 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX3 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX5 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX6 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX7 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX10 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX11B | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX12 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX13 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX14 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX16 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX19 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX26 | Zellweger syndrome, Peroxisome biogenesis disorder |
| PGK1 | Retinitis pigmentosa with myopathy |
| PHYH | Refsum disease |
| PITPNM3 | Dominant cone-rod dystrophy |
| PLA2G5 | Recessive benign fleck retina |
| PLK4 | Retinopathy |
| PNPLA6 | recessive Boucher-Neuhauser syndrome with chorioretinal dystrophy |
| POC1B | recessive cone-rod dystrophy; recessive Joubert syndrome |
| PPT1 | neuronal ceroid lipofuscinosis |
| PRCD | Retinitis pigmentosa |
| PROM1 | Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Macular dystrophy, retinal, |
| PRPF3 | Retinitis pigmentosa |
| PRPF4 | dominant retinitis pigmentosa |
| PRPF6 | dominant retinitis pigmentosa |
| PRPF8 | dominant retinitis pigmentosa |
| PRPF31 | dominant retinitis pigmentosa |
| PRPH2 | dominant retinitis pigmentosa; dominant macular dystrophy |
| PRPS1 | neuropathy, optic atrophy, deafness and retinitis pigmentosa |
| RAB28 | recessive cone-rod dystrophy |
| RAX2 | Cone rod dystrophy |
| RBP3 | Retinitis pigmentosa |
| RBP4 | recessive RPE degeneration |
| RD3 | Leber congenital amaurosis |
| RDH5 | Fundus albipunctatus |
| RDH11 | recessive retinitis pigmentosa |
| RDH12 | Retinitis pigmentosa, Leber congenital amaurosis |
| RGR | Retinitis pigmentosa |
| RGS9 | recessive delayed cone adaptation |
| RGS9BP | recessive delayed cone adaptation |
| RHO | Retinitis pigmentosa, Night blindness, congenital stationary, Retinitis punctata albescens |
| RIMS1 | dominant cone-rod dystrophy |
| RLBP1 | Newfoundland rod-cone dystrophy, Fundus albipunctatus, Bothnia retinal dystrophy, Retinitis punctata albescens |
| ROM1 | dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2 |
| RP1 | Dominant retinitis pigmentosa |
| RP1L1 | Occult macular dystrophy, Retinitis pigmentosa |
| RP2 | X-linked retinitis pigmentosa |
| RP9 | dominant retinitis pigmentosa |
| RPE65 | Retinitis pigmentosa, Leber congenital amaurosis |
| RPGR | Retinitis pigmentosa |
| RPGRIP1 | Cone rod dystrophy, Leber congenital amaurosis |
| RPGRIP1L | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| RS1 | Retinoschisis |
| RTN4IP1 | recessive optic atrophy |
| SAG | Retinitis pigmentosa, Oguchi disease |
| SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
| SEMA4A | Retinitis pigmentosa, Cone rod dystrophy |
| SLC4A7 | recessive retinitis pigmentosa |
| SLC7A14 | recessive retinitis pigmentosa |
| SLC24A1 | recessive congenital stationary night blindness |
| SLC25A46 | recessive syndromic optic atrophy |
| SNRNP200 | Retinitis pigmentosa |
| SPATA7 | Leber congenital amaurosis, Retitinitis pigmentosa |
| SPP2 | dominant retinitis pigmentosa |
| TCTN1 | Joubert syndrome |
| TCTN2 | Joubert syndrome, Meckel syndrome |
| TCTN3 | Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndrome |
| TEAD1 | dominant atrophia areata |
| TIMM8A | optic atrophy with deafness-dystonia syndrome |
| TIMP3 | dominant Sorsby’s fundus dystrophy |
| TMEM67 | Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndrome |
| TMEM126A | Optic atrophy |
| TMEM138 | Joubert syndrome |
| TMEM216 | Joubert syndrome, Meckel syndrome |
| TMEM231 | Joubert syndrome, Meckel syndrome |
| TMEM237 | Joubert syndrome |
| TOPORS | Retitinis pigmentosa |
| TPP1 | spinocerebellar ataxia |
| TREX1 | dominant retinal vasculopathy with cerebral leukodystrophy; dominant Aicardi-Goutiere syndrome 1, dominant chilblain lupus |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TRNT1 | recessive retinitis pigmentosa with erythrocytic microcytosis; recessive retinitis pigmentosa |
| TRPM1 | Night blindness, congenital stationary |
| TSPAN12 | Exudative vitreoretinopathy, Retinal dysplasia and severe familial exudative vitreoretinopathy |
| TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| TTC21B | Short-rib thoracic dysplasia, Nephronophthisis |
| TTLL5 | Recessive cone and cone-rod dystrophy |
| TTPA | Ataxia with isolated vitamin E deficiency |
| TUB | recessive retinal dystrophy and obesity |
| TUBGCP6 | recessive microcephaly with chorioretinopathy |
| TUBGCP4 | recessive chorioretinopathy and microcephaly |
| TULP1 | Retinitis pigmentosa, Leber congenital amaurosis |
| UNC119 | dominant cone-rod dystrophy |
| USH1C | Deafness, Usher syndrome |
| USH1G | Usher syndrome |
| USH2A | Usher syndrome |
| VCAN | Wagner disease |
| WDPCP | recessive Bardet-Biedl syndrome |
| WDR19 | Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia |
| WFS1 | recessive Wolfram syndrome |
| ZNF408 | dominant familial exudative vitreoretinopathy |
| ZNF423 | Nephronophthisis, Joubert syndrome |
| ZNF513 | Retinitis pigmentosa |
Updated:
March 2017
