Classification |
Reference |
Disease |
|
Syndrome visual disturbances
|
EXN1107/SEQ1412 | Albinism isolated and syndromic forms |
| EXN1124/SEQ4329 | Septo-optic dysplasia | |
| SEQ6952 | Neuronal ceroid lipofuscinosis | |
| SEQ8471 | Elastic Pseudoxanthoma | |
| SEQ1062 | Retinoblastoma | |
| SEQ1402 | Alagille Syndrome Types 1 and 2 | |
| SEQ2922 | Cockayne syndrome | |
| SEQ7104 | Marfan syndrome | |
| EXN1127 | Waardenburg syndrome | |
| EXN1110/SEQ1101 | Hermansky-Pudlak syndrome | |
|
Isolated retinal dystrophies
|
EXN1004/SEQ1335 | Achromatopsia |
| EXN10487/SEQ1543 | Leber Congenital Amaurosis | |
| EXN1180/ SEQ1094 | Stationary night blindness | |
| EXN1083 | Macular dystrophy and Stargadt disease | |
| EXN1099 | North Carolina Macular Dystrophy | |
| EXN1142 | Vitelliform macular dystrophy | |
| EXN1179 | X-linked retinal dystrophies | |
| EXN1013 | Pigmentary Retinosis | |
| EXN1084 | Vitreoretinopathy | |
| Global retinal dystrophies | EXN1168 | GLOBAL Retinal dystrophies |
|
Syndrome retinal dystrophies |
EXN1067/SEQ1026 | Cerebral lipofuscinosis |
| EXN1090/SEQ1095 | Bardet-Biedl syndrome | |
| EXN1037/SEQ4598 | Donnai-Barrow syndrome | |
| EXN1021/SEQ1097 | ||
| SEQ1096 | Senior-Loken syndrome | |
| SEQ1100 | Stickler syndrome | |
| EXN1035/SEQ1098 | Usher syndrome | |
|
Neurofotalmology
|
EXN1143/SEQ1981 | Optic atrophy |
| EXN1140/SEQ1032 | Neuro-Ophthalmology | |
| MIT1502 | Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)/Leber's optic neuropathy (LOHN) | |
| MIT1501 | Leber's optic neuropathy (LOHN) | |
| SEQ7521 | Nystagmus | |
|
Others
|
EXN1049/SEQ1103 | Anophthalmia and microphthalmia and anterior segment dysgenesis |
| EXN1085/SEQ1104 | Congenital Cataracts | |
| EXN1102 | Bietti crystalline dystrophy (BCD) | |
| EXN1072/SEQ4451 | Corneal dystrophy | |
| EXN1087/SEQ1102 | Glaucoma | |
| SEQ references correspond to studies performed using NIMSeq® | ||
| EXN references correspond to studies performed using ExoNIM® | ||
| MIT references correspond to mitochondrial DNA sequencing studies. Availability of full mitochondrial sequencing. | ||
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