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Anophthalmia

+info Recommended test: Whole Exome Sequencing (WES)

Anterior segment dysgenesis

+info Recommended test: Whole Exome Sequencing (WES)

Biotinidase deficiency

+info Recommended test: Whole Exome Sequencing (WES)

Blepharophimosis syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Bosch-Boonstra-Schaaf opticatrophy syndrome

+info Recommended test: Optic Atrophy Panel
Other tests available: Complete Panel of Retinal Dystrophies and Other Eye Diseases, Whole Exome Sequencing (WES),

Branchiooculofacial syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Brittle cornea syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Catarats

+info Recommended test: Whole Exome Sequencing (WES)

Charcot-Marie-Tooth disease

+info Recommended test: Whole Exome Sequencing (WES)

Ched corneal endothelial dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Chediak-Higashi syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Coloboma

+info Recommended test: Whole Exome Sequencing (WES)

Congenital stromal corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Corneal disease

+info Recommended test: Whole Exome Sequencing (WES)

Donnai-Barrow syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Duane-radial ray syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Ectopia lentis

+info Recommended test: Whole Exome Sequencing (WES)

EEC syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Fehr corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Fleck corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Fraser syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Fuchs Endothelial Dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Gelatinous drop-like corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Groenouw corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Heimler syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Keratoconus

+info Recommended test: Whole Exome Sequencing (WES)

Lattice dystrophy type I

+info Recommended test: Whole Exome Sequencing (WES)

Leber hereditary optic neuropathy

+info Recommended test: Whole Exome Sequencing (WES)

Lenz microphthalmia syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Lowe syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Macular dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Meesmann corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Megalocornea

+info Recommended test: Whole Exome Sequencing (WES)

Microftalmia

+info Recommended test: Whole Exome Sequencing (WES)

Neuronal ceroid lipofuscinosis

+info Recommended test: Whole Exome Sequencing (WES)

Oculoauriculovertebral spectrum / Hemifacial microsomia

+info Recommended test: Whole Exome Sequencing (WES)

Oculodentodigital dysplasia

+info Recommended test: Whole Exome Sequencing (WES)

Oculofaciocardiodental syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Open-angle glaucoma

+info Recommended test: Whole Exome Sequencing (WES)

Optic neuropathy

+info Recommended test: Whole Exome Sequencing (WES)

Oral-facial-digital syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Peters plus syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Posterior polymorphous corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Progressive external ophthalmoplegia

+info Recommended test: Whole Exome Sequencing (WES)

Reis-Bucklers corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Retinal dystrophy syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Retinal vasculopathy

+info Recommended test: Whole Exome Sequencing (WES)

Schnyder corneal dystrophy

+info Recommended test: Whole Exome Sequencing (WES)

Septo-optic dysplasia/ De Morsier syndrome

+info Recommended test: Complete Panel of Retinal Dystrophies and Other Eye Diseases
Other tests available: Whole Exome Sequencing (WES),

Warburg micro syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Wolfram syndrome

+info Recommended test: Whole Exome Sequencing (WES)

Xeroderma pigmentosum

+info Recommended test: Whole Exome Sequencing (WES)

Zellweger spectrum disorder

+info Recommended test: Whole Exome Sequencing (WES)

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