Vision impairment

Vision impairmentFor vision impairment disorders we offer exome sequencing diagnostics, multiple gene diagnostics and single gene diagnostics.

Below you can find all the vision impairment disorders we currently offer. Please click on a disorder for more information about the price and to place your order. You can also visit our ordering site directly.


Exome sequencing diagnostics:
 
Multiple gene diagnostics:
 

Single gene diagnostics:
  Updated 9th of March 2018

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

A

Abetalipoproteinemia
Achromatopsia
Age-related Macular Degeneration (AMD)
Alstrom syndrome
Aniridia

B

Bardet-Biedl syndrome
Basal Laminar Drusen
Bestrophinopathy
Bietti crystalline corneoretinal dystrophy
Blue cone monochromacy
Bothnia retinal dystrophy
Boucher-Neuhauser syndrome
Branchio-oculo-facio syndrome (BOF)

C

CAPOS syndrome
Central Areolair Chorioid Dystrophy
CHARGE syndrome
Choroideremia
Color blindness, red/green
Cone dystrophy
Cone-rod dystrophy (CRD)
Congenital cataracts with facial dysmorphism and neuropathy
Congenital disorder of glycosylation
Congenital stationary night blindness
Cornea plana congenita

D

Donnai-Barrow syndrome

E

Enhanced S-cone syndrome
Exsudative Vitreoretinopathy

F

Fleck retina, familial benign
Fundus albipunctatus

G

Glaucoma
Gyrate atrophy of choroid and retina

L

Leber Congenital Amaurosis

M

Macula dystrophy
Macular corneal dystrophy type 1
Malattia Leventinese
Marinesco-Sjögren syndrome
Microphtalmia, syndromic

N

Nance-Horan Syndrome
Norrie disease

O

Oculodentodigital dysplasia (ODDD)
Optic atrophy
Osteoporosis-pseudoglioma syndrome (OPPG)

P

Papillorenal syndrome

R

Retinal macular dystrophy
Retinitis Pigmentosa, autosomal dominant
Retinitis Pigmentosa, autosomal recessive
Retinitis punctata albescens

S

Schimke immunoosseous dysplasia
Senior-Loken syndrome
Sjogren-Larsson syndrome
Stargardt disease
Stickler syndrome

T

Tay Sachs disease
Treacher Collins-Franceschetti syndrome

U

Usher syndrome
Uveal melanoma, hereditary

V

Vision disorders (WES)
Vitelliform Macular Dystrophy
Vitreoretinochoroidopathy
Von Hippel-Lindau syndrome

W

Wagner disease
Weill-Marchesani syndrome
Wolfram syndrome (DIDMOAD)