List of diseases covered by Leber Congenital Amaurosis NGS panel

Gene Condition
AIPL1 Leber congenital amaurosis 4
CABP4 Cone-rod synaptic disorder, congenital nonprogressive
CEP290 Leber congenital amaurosis 10; Bardet-Biedl syndrome 14
CRB1 Leber congenital amaurosis 8;
Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa-12,
autosomal recessive
CRX Leber congenital amaurosis 7; Cone-rod retinal dystrophy-2
GDF6 Leber congenital amaurosis 17;
Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4
GUCY2D Leber congenital amaurosis 1;
Cone-rod dystrophy 6; Central areolar choroidal dystrophy 1
IMPDH1 Leber congenital amaurosis 11; Retinitis pigmentosa 10
IQCB1 Senior-Loken syndrome 5
KCNJ13 Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration
LCA5 Leber congenital amaurosis 5
LRAT Leber congenital amaurosis 14
NMNAT1 Leber congenital amaurosis 9
OTX2 Retinal dystrophy, early-onset,
with or without pituitary dysfunction; Microphthalmia, syndromic 5
RD3 Leber congenital amaurosis 12
RDH12 Leber congenital amaurosis 13
RPE65 Leber congenital amaurosis 2; Retinitis pigmentosa 20
RPGRIP1 Leber congenital amaurosis 6; Cone-rod dystrophy 13
SPATA7 Leber congenital amaurosis 3
TULP1 Leber congenital amaurosis 15; Retinitis pigmentosa 14