List of diseases covered by
Corneal Dystrophy NGS panel

Gene Condition
CHST6 Macular corneal dystrophy
COL5A1 Ehlers-Danlos syndrome, classic type, 1
COL17A1 Epithelial recurrent erosion dystrophy
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
CYP4V2 Bietti crystalline corneoretinal dystrophy
DCN Corneal dystrophy, congenital stromal
GSN Amyloidosis, Finnish type
KRT3 Meesmann corneal dystrophy
KRT12 Meesmann corneal dystrophy
LOXHD1 Deafness, autosomal recessive 77
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4;
Corneal endothelial dystrophy and perceptive deafness;
Corneal endothelial dystrophy, autosomal recessive
SOD1 Amyotrophic lateral sclerosis 1
ZEB1 Corneal dystrophy, Fuchs endothelial, 6;
Corneal dystrophy, posterior polymorphous, 3
ZNF469 Brittle cornea syndrome 1
TACSTD2 Corneal dystrophy, gelatinous drop-like
TGFBI Corneal dystrophy, Avellino type;
Corneal dystrophy, epithelial basement membrane;
Corneal dystrophy, Groenouw type I;
Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA;
Corneal dystrophy, Reis-Bucklers type;
Corneal dystrophy, Thiel-Behnke type
UBIAD1 Corneal dystrophy, Schnyder type
VSX1 Keratoconus 1