The CDL offers a testing panel sequencing 6 genes associated with Stickler syndrome.  Pathogenic variants in the COL2A1, COL9A1, COL9A2, COL9A3, COL11A1 and COL11A2 genes, which code for type II, IX, and XII collagen, cause Stickler syndrome.

Stickler syndrome is a connective tissue disorder that may include ocular findings of myopia, cataract, and retinal detachment; hearing loss; midfacial underdevelopment and cleft palate; and mild spondylospiphyseal dysplasia and/or precocious arthritis.  The phenotype may be quite variable both within and between families.