Visual Impairment
|
Product Name |
Application |
Region |
|
P027-Uveal melanoma |
Uveal melanoma |
1p, chr.3, 6p, 8q |
|
P047-RB1 |
Retinoblastoma (RB) |
RB1 13q14 |
|
P054-FOXL2-TWIST1 |
Ophthalmogenetic anomalies |
FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 |
|
P065-Marfan-1 |
Marfan syndrome |
FBN1 15q21.1, TGFBR2 3p22 |
|
P066-Marfan-2 |
Marfan syndrome |
FBN1 15q21.1 |
|
P092-ABCC6 |
Pseudoxanthoma elasticum |
ABCC6 16p13.11 |
|
P151-ABCA4 mix-1 |
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies |
ABCA4 (ABCR) 1p22.1 |
|
P152-ABCA4 mix-2 |
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies |
ABCA4 (ABCR) 1p22.1 |
|
P219-PAX6 |
Ocular malformations, hereditary |
PAX6 11p13, SOX2 3q26, WT1, 11p13 |
|
P221-LCA mix-1 |
Leber congenital amaurosis (LCA) |
AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31 |
|
P222-LCA mix-2 |
Leber congenital amaurosis (LCA) |
GUCY2D 17p13.1, RDH12 14q24, RPGRIP1 14q11, CEP290 12q21 |
|
P229-OPA1 |
Macular dystrophy |
OPA1 3q28, VMD2 11q13, RDS 6p21.2 |
|
P235-Retinitis |
Retinitis Pigmentosa |
RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4 |
|
P236-ARMD mix-1 (basic research) |
Age-related macular degeneration (ARMD) |
CFH, CFHR3, CFHR1, CFHR2, 1q23 |
|
P269-FRMD7 |
Congenital nystagmus |
Xq26 (NYS1 locus), FRMD7 |
|
P285-LRP5 |
Osteoporosis-pseudoglioma syndrome (OPPS) |
LRP5 11q13.4, DKK1 10q11.2 |
|
P292-PCDH15 |
Usher syndrome |
PCDH15 10q21.1 |
|
P310-TCOF1 |
Treacher Collins-Franceschetti 1 |
TCOF1 |
|
P313-CREBBP |
Rubinstein–Taybi syndrome (RSTS) |
CREBBP 16p13.3 |
|
P325-OCA2 |
oculocutaneous albinism |
OCA2 15q12; TYR 11q14.3 |
|
P326-LARGE |
Walker-Warburg Syndrome |
LARGE, FKTN, POMT2 |
|
P328-EYS |
Retinitis Pigmentosa |
EYS 6q12 |
|
P333-EP300 |
Rubinstein–Taybi syndrome (RSTS) |
EP300; 22q13.2 |
|
P361-USH2A mix 1 |
Usher syndrome |
USH2A 1q41 |
|
P362-USH2A mix 2 |
Usher syndrome |
USH2A 1q41 |
|
P366-CHM-RP2-RPGR |
Retinitis pigmentosa (RP) |
CHM-RP2-RPGR |
|
P367-BEST1-PRPH2 |
Macular Dystrophy, Vitelliform |
BEST1 (=VDM2), PRPH2 (=RDS) |
|
P381-COL11A1 mix 1 |
Marshall, type II Stickler syndromes |
COL11A1 |
|
P382-COL11A1 mix 2 |
Marshall, type II Stickler syndromes |
COL11A1 |
|
P470-NCL |
Neuronal Ceroid Lipofuscinoses/Batten Disease |
01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2 |
|
P473-CTNS |
(Nephropathic) Cystinosis |
17p13.2 |
