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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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