List of diseases covered by
Stickler Syndrome NGS panel

Gene Condition
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease; Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
COL9A1 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
COL9A2 Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy
COL11A1 Stickler syndrome, type II; Fibrochondrogenesis 1; Marshall syndrome
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive