Cone – rod dystrophy
Analysis ID 244
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Cone – rod dystrophy
OMIM #601777
Clinical information Cone-rod dystrophy (CORD) typically leads to an early onset impairment of vision. Initially, loss of color vision and visual acuity is observed, which is then followed by night blindness and loss of peripheral vision. In extreme cases, these progressive symptoms are accompanied with progressive retinal pigmentation and chorioretinal atrophy of the central and peripheral retina. In the majority of families, atrophy of the central and peripheral retina is not found.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes GUCY2D
Analysis description Sequencing analysis of exon 13 of the GUCY2D gene
Analysis indication Cone – rod dystrophy
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders