Wilson disease - panel 1
Analysis ID 80
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Wilson disease - panel 1
OMIM #277900
Clinical information Wilson disease is a rare genetic autosomal recessive disorder affecting copper metabolism occurring with the frequency of 1 in every 30000 live births. It is caused by mutations in the ATP7B gene located on the chromosome 13.
Type of analysis Molecular
Type of biological material Peripheral blood collected in EDTA tube (5 ml); DNA sample
Analyzed genes ATP7B
Analysis description Analysis of the most common mutation in exon 14 of the ATP7B gene (mutation H1069Q)
Analysis indication Symptoms of Wilson disease.
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders