Molecular Genetic Ataxia - Telangiectasia ( ATM ) Gene Analysis - NGS
Test Code
MOG21
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 Ataxia-Telangiectasia (ATM) Gene Analysis. Ataxia-Telangiectasia (A-T) is caused by mutations in the ATM gene. NGS enables comprehensive sequencing of all coding regions (exons) and often critical intronic/splice site regions of the ATM gene. Given the large size of the ATM gene and the wide variety of mutations (point mutations, small insertions, deletions, and even large genomic rearrangements) that can cause A-T, NGS provides a highly accurate, sensitive, and comprehensive approach to identify these specific genetic defects. This is crucial for definitive diagnosis, carrier identification, and guiding genetic counseling.
Sample Required
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.