Achromatopsia 2 - CNGA3 gene (the 4 most common mutations)
Analysis ID 246
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Achromatopsia 2 - CNGA3 gene (the 4 most common mutations)
OMIM 216900
Clinical information Total color blindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and complete inability to discriminate between colors. Electroretinographic assays show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor response is absent.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes CNGA3
Analysis description Indentification of 4 most common mutations in the CNGA3 gene
Analysis indication Achromatopsia
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders