Achromatopsia 3 - CNGB3 gene (the most common mutation)
Analysis ID 247
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Achromatopsia 3 - CNGB3 gene (the most common mutation)
OMIM 262300
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 CNGB3
Analysis description Analysis consists of identification of the most common mutation in the CNGB3 gene
Analysis indication Achromatopsia
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders