Test Details

WILSON DISEASE ATP7 B GENE MUTATION DETECTION

Test Price: ₹ 40000

Wilson disease is most commonly caused by mutations in the ATP7B gene. The most commonly seen mutation is H1069Q, accounting for 37-63% of mutations in Caucasians. The mutation R778L accounts for 57% of Wilson disease alleles in the East Asian population. There are more than 370 mutations reported worldwide.



Test Code:
DVCL0663
Report Delivery:
Sample Daily by 11 am ; Report 2 months
Parameters Included:
0
Category:
Metabolic disorders
Pre-Test Information:
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Method:
PCR
Specimen:
4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Stability Room:
Stability Refrigerated:
1 week
Stability Frozen:

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