List of diseases covered by the NGS panel of 294 genes
| Gene | Condition |
| ABCA4 | Stargardt disease 1; Cone-rod dystrophy 3 |
| ABCB6 | Microphthalmia, isolated, with coloboma 7 |
| ABCC6 | Pseudoxanthoma elasticum |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| ACBD5 | Cone-rod dystrophy |
| ADAM9 | Cone-rod dystrophy 9 |
| ADAMTS18 | Microcornea, myopic chorioretinal atrophy, and telecanthus |
| ADGRV1 | Usher syndrome, type 2C |
| AGK | Cataract, autosomal recessive congenital 5 |
| AHI1 | Joubert syndrome 3 |
| AIPL1 | Leber congenital amaurosis 4 |
| ALMS1 | Alstrom syndrome |
| ARL13B | Joubert syndrome 8 |
| ARL6 | Bardet-Biedl syndrome 3 |
| ATF6 | Achromatopsia 7 |
| B3GLCT | Peters plus syndrome |
| BBS1 | Bardet-Biedl syndrome 1 |
| BBS2 | Bardet-Biedl syndrome 2 |
| BBS4 | Bardet-Biedl syndrome 4 |
| BBS5 | Bardet-Biedl syndrome 5 |
| BBS7 | Bardet-Biedl syndrome 7 |
| BBS9 | Bardet-Biedl syndrome 9 |
| BBS10 | Bardet-Biedl syndrome 10 |
| BBS12 | Bardet-Biedl syndrome 12 |
| BCOR | Oculofaciocardiodental syndrome |
| BEST1 | Vitelliform macular dystrophy type 2; Retinitis pigmentosa 50; Vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive |
| BFSP2 | Cataract, autosomal dominant, multiple types 1 |
| BMP4 | Microphthalmia syndromic 6 |
| C19orf12 | Neurodegeneration with brain iron accumulation 4 |
| C1QTNF5 | Late-onset retinal degeneration |
| C2orf71 | Retinitis pigmentosa 54 |
| C8orf37 | Bardet-Biedl syndrome 21; Cone-rod dystrophy 16 |
| CA4 | Retinitis pigmentosa 17 |
| CABP4 | Congenital stationary night blindness, type 2B |
| CACNA1F | Congenital stationary night blindness, type 2A |
| CACNA2D4 | Cone-rod dystrophy X-linked 3; Retinal cone dystrophy 4 |
| CC2D2A | Joubert syndrome 9; Meckel syndrome type 6; COACH syndrome |
| CDH23 | Usher syndrome, type 1D |
| CDH3 | EEM syndrome; Juvenile macular degeneration and hypotrichosis |
| CDHR1 | Cone-rod dystrophy 15 |
| CEP290 | Leber congenital amaurosis 10; Bardet-Biedl syndrome 14 |
| CEP41 | Joubert syndrome 15 |
| CERKL | Retinitis pigmentosa 26 |
| CFAP410 | Retinal dystrophy with macular staphyloma; Spondylometaphyseal dysplasia, axial |
| CFH | Age-related macular degeneration 4 |
| CHM | Choroideremia |
| CHMP4B | Cataract, posterior polar, 3 |
| CHST6 | Macular corneal dystrophy type I |
| CIB2 | Usher syndrome, type 1J |
| CLN3 | Juvenile neuronal ceroid lipofuscinosis |
| CLN5 | Ceroid lipofuscinosis neuronal 5 |
| CLN6 | Ceroid lipofuscinosis neuronal 6 |
| CLN8 | Ceroid lipofuscinosis neuronal 8 |
| CLRN1 | Retinitis pigmentosa 61; Usher syndrome, type 3A |
| CNGA1 | Retinitis pigmentosa 49 |
| CNGA3 | Achromatopsia 2 |
| CNGB1 | Retinitis pigmentosa 45 |
| CNGB3 | Achromatopsia 3 |
| CNNM4 | Cone-rod dystrophy amelogenesis imperfecta |
| COL11A1 | Stickler syndrome, type 2; Marshall syndrome |
| COL11A2 | Stickler syndrome, type 3 |
| COL2A1 | Stickler syndrome type 1 |
| COL8A2 | Corneal dystrophy Fuchs endothelial 1; Corneal dystrophy, posterior polymorphous, 2 |
| COL4A1 | Retinal arteries, tortuosity of |
| COL4A6 | Deafness, X-linked 6 |
| COL9A1 | Stickler syndrome, type 4 |
| COL9A2 | Stickler syndrome, type 5 |
| CRB1 | Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa 12 |
| CRX | Leber congenital amaurosis 7; Cone-rod dystrophy 2 |
| CRYAA | Cataract, autosomal dominant |
| CRYAB | Cataract 16, multiple types |
| CRYBA1 | Cataract, congenital zonular, with sutural opacities |
| CRYBA4 | Cataract 23 |
| CRYBB1 | Cataract, congenital nuclear, autosomal recessive 3 |
| CRYBB2 | Cataract 3, multiple types |
| CRYBB3 | Cataract, congenital nuclear, autosomal recessive 2 |
| CRYGB | Cataract 39, multiple types |
| CRYGC | Cataract, coppock-like |
| CRYGD | Cataract 4 |
| CRYGS | Cataract 20, multiple types |
| CTDP1 | Congenital Cataracts, facial dysmorphism, and neuropathy |
| CTNNA1 | Macular dystrophy, patterned, 2 |
| CTSD | Ceroid lipofuscinosis neuronal 10 |
| CYP1B1 | Anterior segment dysgenesis 6; Glaucoma 3, primary infantile, b |
| CYP4V2 | Bietti crystalline corneoretinal dystrophy |
| DCN | Congenital stromal corneal dystrophy |
| DHDDS | Retinitis pigmentosa 59 |
| DSPP | Deafness, autosomal dominant 39, with dentinogenesis |
| EFEMP1 | Doyne honeycomb retinal dystrophy |
| ELOVL4 | Stargardt disease 3 |
| EPHA2 | Cataract 6, multiple types |
| EYS | Retinitis pigmentosa 25 |
| FAM161A | Retinitis pigmentosa 28 |
| FLVCR1 | Posterior column ataxia with retinitis pigmentosa |
| FRAS1 | Cryptophthalmos syndrome |
| FREM1 | Marles Greenberg Persaud syndrome |
| FREM2 | Cryptophthalmos syndrome |
| FSCN2 | Retinitis pigmentosa 30 |
| FTL | Hyperferritinemia cataract syndrome |
| FYCO1 | Cataract, autosomal recessive congenital 2 |
| FZD4 | Exudative vitreoretinopathy 1 |
| GALK1 | Deficiency of galactokinase |
| GALT | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| GDF3 | Klippel-Feil syndrome 3, autosomal dominant; Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6 |
| GDF6 | Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Microphthalmia, isolated 4 |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
| GIPC3 | Deafness, autosomal recessive 15 |
| GJA1 | Oculodentodigital dysplasia, autosomal recessive |
| GJA3 | Zonular pulverulent cataract 3 |
| GNAT1 | Congenital stationary night blindness, autosomal dominant 3; Night blindness, congenital stationary, type 1g |
| GNAT2 | Achromatopsia 4 |
| GNPTG | Mucolipidosis III gamma |
| GPR143 | Ocular albinism, type I; Nystagmus 6, congenital, X-linked |
| GPR179 | Congenital stationary night blindness, type 1E |
| GRIP1 | Cryptophthalmos syndrome |
| GRK1 | Oguchi disease 2 |
| GRM6 | Congenital stationary night blindness, type 1B |
| GRN | Ceroid lipofuscinosis, neuronal, 11 |
| GSN | Meretoja syndrome |
| GUCA1A | Cone dystrophy 3 |
| GUCA1B | Retinitis pigmentosa 48 |
| GUCY2D | Leber congenital amaurosis 1; Cone-rod dystrophy 6 |
| HARS | Usher syndrome, type 3B |
| HCCS | Linear skin defects with multiple congenital anomalies 1 |
| HMX1 | Oculoauricular syndrome |
| HSF4 | Cataract, zonular |
| IDH3B | Retinitis pigmentosa 46 |
| IFT140 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia |
| IMPDH1 | Retinitis pigmentosa 10; Leber congenital amaurosis 11 |
| IMPG1 | Macular dystrophy, vitelliform, 4 |
| IMPG2 | Retinitis pigmentosa 56; Macular dystrophy, atypical vitelliform |
| INVS | Infantile nephronophthisis |
| ITM2B | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
| IQCB1 | Senior-Loken syndrome 5 |
| JAG1 | Alagille syndrome 1 |
| JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
| KARS1 | Deafness, autosomal recessive 89 |
| KCNJ13 | Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| KIF7 | Acrocallosal syndrome, Schinzel type |
| KIF21A | Fibrosis of extraocular muscles, congenital, 1 |
| KLHL7 | Retinitis pigmentosa 42 |
| KRT12 | Meesman’s corneal dystrophy |
| KRT3 | Meesman’s corneal dystrophy |
| LAMA1 | Poretti-boltshauser syndrome |
| LCA5 | Leber congenital amaurosis 5 |
| LHFPL5 | Deafness, autosomal recessive 67 |
| LIM2 | Cataract 19, multiple types |
| LOXHD1 | Deafness, autosomal recessive 77 |
| LRAT | Leber congenital amaurosis 14 |
| LRP5 | Exudative vitreoretinopathy 4 |
| LZTFL1 | Bardet-Biedl syndrome 17 |
| MAK | Retinitis pigmentosa 62 |
| MERTK | Retinitis pigmentosa 38 |
| MFN2 | Hereditary motor and sensory neuropathy with optic atrophy |
| MFRP | Microphthalmia, isolated 5; Nanophthalmos 2 |
| MFSD8 | Macular dystrophy with central cone involvement |
| MIP | Cataract 15, multiple types |
| MKKS | Bardet-Biedl syndrome 6 |
| MKS1 | Bardet-Biedl syndrome 13 |
| MTTP | Abetalipoproteinaemia |
| MVK | Mevalonic aciduria |
| MYO7A | Usher syndrome, type 1 |
| MYOC | Primary open angle glaucoma juvenile onset 1 |
| NAA10 | Lenz microphthalmia syndrome |
| NDP | Familial exudative vitreoretinopathy, X-linked; Atrophia bulborum hereditaria |
| NHS | Nance-Horan syndrome; Cataract 40 |
| NMNAT1 | Leber congenital amaurosis 9 |
| NPHP1 | Joubert syndrome 4; Senior-Loken syndrome 1 |
| NPHP3 | Adolescent nephronophthisis; Meckel syndrome 7 |
| NPHP4 | Senior-Loken syndrome 4 |
| NR2E3 | Retinitis pigmentosa 37; Enhanced s-cone syndrome |
| NRL | Retinitis pigmentosa 27 |
| NYX | Congenital stationary night blindness, type 1A |
| OAT | Ornithine aminotransferase deficiency |
| OFD1 | Retinitis pigmentosa 23; Joubert syndrome 10 |
| OPA1 | Dominant hereditary optic atrophy; Autosomal dominant optic atrophy plus syndrome; Glaucoma, normal tension, susceptibility to |
| OPA3 | Optic atrophy and cataract, autosomal dominant |
| OPN1MW | Colorblindness, partial, deutan series; Cone monochromatism |
| OTX2 | Microphthalmia syndromic 5 |
| PANK2 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration |
| PAX2 | Renal coloboma syndrome |
| PAX6 | Aniridia 1; Irido-corneo-trabecular dysgenesis; Optic nerve hypoplasia, bilateral; Coloboma of optic disc |
| PCDH15 | Usher syndrome, type 1F; Usher syndrome type ID/F, CDH23/PCDH15, digenic |
| PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy |
| PDE6A | Retinitis pigmentosa 43 |
| PDE6B | Retinitis pigmentosa 40; Congenital stationary night blindness, autosomal dominant 2 |
| PDE6C | Cone dystrophy 4 |
| PDE6G | Retinitis pigmentosa 57 |
| PDE6H | Retinal cone dystrophy 3A |
| PDZD7 | Usher syndrome, type 2A; Usher syndrome type 2c, GPR98/PDZD digenic |
| PEX7 | Peroxisome biogenesis disorder 9B |
| PHOX2A | Fibrosis of extraocular muscles, congenital, 2 |
| PHYH | Phytanic acid storage disease |
| PIKFYVE | Fleck corneal dystrophy |
| PITPNM3 | Cone-rod dystrophy 5 |
| PITX2 | Iridogoniodysgenesis, dominant type; Axenfeld-Rieger syndrome type 1; Ring dermoid of cornea |
| PITX3 | Anterior segment mesenchymal dysgenesis; Cataract, posterior polar, 4 |
| PLA2G5 | Fleck retina, familial benign |
| POC1B | Cone-rod dystrophy 20 |
| PPT1 | Ceroid lipofuscinosis neuronal 1 |
| PRCD | Retinitis pigmentosa 36 |
| PRDM5 | Brittle cornea syndrome 2 |
| PROM1 | Cone-rod dystrophy 12; Retinitis pigmentosa 41; Stargardt disease 4; Bull’s eye macular dystrophy |
| PRPF3 | Retinitis pigmentosa 18 |
| PRPF31 | Retinitis pigmentosa 11 |
| PRPF6 | Retinitis pigmentosa 60 |
| PRPF8 | Retinitis pigmentosa 13 |
| PRPH2 | Choroidal dystrophy, central areolar 2; Retinitis pigmentosa 7; Patterned dystrophy of retinal pigment epithelium; Macular dystrophy, vitelliform, adult-onset; Pigmentary retinal dystrophy |
| PRSS56 | Microphthalmia, isolated 6 |
| RAB28 | Cone-rod dystrophy 18 |
| RAX2 | Cone-rod dystrophy 11; Age-related macular degeneration 6 |
| RBP3 | Retinitis pigmentosa 66 |
| RBP4 | Microphthalmia, isolated, with coloboma 10; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome |
| RD3 | Leber congenital amaurosis 12 |
| RDH12 | Leber congenital amaurosis 13 |
| RDH5 | Pigmentary retinal dystrophy |
| RGR | Retinitis pigmentosa 44 |
| RGS9 | Prolonged electroretinal response suppression |
| RGS9BP | Prolonged electroretinal response suppression |
| RHO | Pigmentary retinal dystrophy; Congenital stationary night blindness, autosomal dominant 1; Retinitis pigmentosa 4 |
| RIMS1 | Cone-rod dystrophy 7 |
| RLBP1 | Pigmentary retinal dystrophy; Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy |
| ROM1 | Retinitis pigmentosa 7 |
| RP1 | Retinitis pigmentosa 1 |
| RP1L1 | Occult macular dystrophy |
| RP2 | Retinitis pigmentosa 2 |
| RP9 | Retinitis pigmentosa 9 |
| RPE65 | Leber congenital amaurosis 2; Retinitis pigmentosa 20 |
| RPGR | Cone-rod dystrophy, X-linked 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Retinitis pigmentosa 15 |
| RPGRIP1 | Cone-rod dystrophy 13; Leber congenital amaurosis 6 |
| RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 |
| RS1 | Juvenile retinoschisis |
| SAG | Oguchi’s disease; Retinitis pigmentosa 47 |
| SDCCAG8 | Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 |
| SEMA4A | Cone-rod dystrophy 2; Retinitis pigmentosa 35 |
| SIX6 | Microphthalmia syndromic 3 |
| SLC24A1 | Congenital stationary night blindness, type 1D |
| SLC45A2 | Oculocutaneous albinism type 4 |
| SLC4A11 | Corneal dystrophy, Fuchs endothelial, 4; Corneal dystrophy and perceptive deafness; Corneal endothelial dystrophy type 2 |
| SNRNP200 | Retinitis pigmentosa 33 |
| SOX2 | Microphthalmia syndromic 3 |
| SPATA7 | Leber congenital amaurosis 3 |
| STRA6 | Microphthalmia syndromic 9 |
| TACSTD2 | Lattice corneal dystrophy type III |
| TCTN1 | Joubert syndrome 13 |
| TCTN2 | Joubert syndrome 24; Meckel syndrome type 8 |
| TDRD7 | Cataract, autosomal recessive congenital 4 |
| TEAD1 | Sveinsson chorioretinal atrophy |
| TGFBI | Avellino corneal dystrophy; Corneal epithelial dystrophy; Groenouw corneal dystrophy type I; Lattice corneal dystrophy type I; Lattice corneal dystrophy type 3A; Reis-Bucklers’ corneal dystrophy; Thiel-Behnke corneal dystrophy |
| TIMM8A | Mohr-Tranebjaerg syndrome |
| TIMP3 | Sorsby fundus dystrophy |
| TMEM126A | Optic atrophy 7 |
| TMEM138 | Joubert syndrome 16 |
| TMEM216 | Joubert syndrome 2; Meckel syndrome type 2 |
| TMEM237 | Joubert syndrome 14 |
| TMEM67 | COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3 |
| TNC | Deafness, autosomal dominant 56 |
| TOPORS | Retinitis pigmentosa 31 |
| TPP1 | Ceroid lipofuscinosis neuronal 2 |
| TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy |
| TRIM32 | Bardet-Biedl syndrome 11 |
| TRPM1 | Congenital stationary night blindness, type 1C |
| TSPAN12 | Exudative vitreoretinopathy 5 |
| TTC21B | Nephronophthisis 12 |
| TTC8 | Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 |
| TUBB3 | Fibrosis of extraocular muscles, congenital, 3A |
| TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 |
| TTLL5 | Cone-rod dystrophy 19 |
| TULP1 | Retinitis pigmentosa 14; Leber congenital amaurosis 15 |
| TYR | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness |
| TYRP1 | Oculocutaneous albinism type 3 |
| UBIAD1 | Schnyder crystalline corneal dystrophy |
| UNC119 | Cone-rod dystrophy |
| USH1C | Usher syndrome, type 1C |
| USH1G | Usher syndrome, type 1G |
| USH2A | Usher syndrome, type 2A; Retinitis pigmentosa 39 |
| VAX1 | Microphthalmia, syndromic 11 |
| VCAN | Wagner syndrome |
| VIM | Cataract 30 |
| VPS13B | Cohen syndrome |
| VSX1 | Craniofacial anomalies and anterior segment dysgenesis syndrome; Keratoconus 1 |
| VSX2 | Microphthalmia, isolated 2; Microphthalmia, isolated, with coloboma 3 |
| WDPCP | Bardet-Biedl syndrome 15 |
| WDR19 | Senior-Loken syndrome 8 |
| WFS1 | Cataract 41 |
| WHRN | Usher syndrome, type 2D |
| YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation |
| ZEB1 | Corneal dystrophy, Fuchs endothelial, 6; Posterior polymorphous corneal dystrophy 3 |
| ZNF469 | Corneal fragility keratoglobus, blue sclerae and joint hypermobility |
| ZNF513 | Retinitis pigmentosa 58 |
| ZNF644 | Myopia 21, autosomal dominant |