Choroidal dystrophy, central areolar 2
Analysis ID 249
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Choroidal dystrophy, central areolar 2
OMIM #613105
Clinical information Central areolar choroidal dystrophy (CACD) is a hereditary disorder of the macula, in which a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris is observed.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes PRPH2
Analysis description Sequencing of the entire coding region of the PRPH2 gene
Analysis indication Choroidal dystrophy, central areolar 2
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders