Molecular Genetic Wilson Disease ( ATP7B ) Gene Analysis - NGS
Test Code
MOG17
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing)
NGS (Next-Generation Sequencing) is the advanced molecular diagnostic technology employed for Wilson Disease (ATP7B) Gene Analysis. Wilson disease is caused by mutations in the ATP7B gene. NGS allows for comprehensive sequencing of all coding regions (exons) and often critical intronic/splice site regions of the ATP7B gene. Unlike older methods that might only test for a few common mutations, NGS can simultaneously detect a vast array of known pathogenic point mutations, small insertions, and deletions throughout the entire gene. This provides a highly accurate, comprehensive, and sensitive approach to identifying the specific genetic defects causing Wilson disease, which is crucial for definitive diagnosis, carrier screening, and guiding genetic counseling.
Sample Required
WB EDTA Whole Blood (WB) in EDTA Vacutainer
(A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the blood sample for high-quality DNA extraction.)
Preparation
No specific preparation is typically required for this genetic test. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any ti... Read more
Schedule Report
30 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.