Targeted by Real-time PCR
full exon of the ATP7B gene by sequencing
Wilson Disease
Venous blood in EDTA (lavender top) tube
Adult (2-5ml),
Child (0.5-2ml)
4oC to ambient.
Do not Freeze
- Inappropriate collection tube - Lack of clinical information - Inadequate specimen identification
Sundays to Thursday
TAT : 3 weeks for known mutations
10 weeks for full ATP7B exon, 5’UTR and promoter regions sequencing
