Doyne honeycomb retinal dystrophy
Analysis ID 128
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Doyne honeycomb retinal dystrophy
OMIM #126600
Clinical information Disorder is characterized by slowly progressive loss of central visual acuity. Characteristic small round white spots located in the posterior pole of the eye, including the areas of the macula and optic disc, appear in early adult life.
Type of analysis molekularne
Type of biological material Krew obwodowa pobrana na EDTA; Próbka DNA
Analyzed genes EFEMP1
Analysis description
Analysis indication Symptoms of Doyne honeycomb retinal dystrophy
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders