Wilson disease - panel 2
Analysis ID 279
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Wilson disease - panel 2
OMIM #277900
Clinical information Wislon disease is a rare an autosomal recessive disorder affecting copper metabolism occurring with the frequency of 1 in every 30000 people. It is caused by recessive mutations in the ATP7B gene.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes ATP7B
Analysis description 6 additional exons (containing common Polish mutations) of the ATP7B gene not covered in panel 1
Analysis indication Symptoms of Wilson disease and no mutations detected upon panel 1 analysis
Analysis time 3 – 4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders