Test

Molecular Genetic Beta Thalassemia Mutation Analysis - NGS

₹22,500 ₹15,999
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Test Code

MOG08

Also Known As

No data available

Test Parameters Included

No data available

Department

MOLECULAR GENETICS

Methodology

NGS (Next-Generation Sequencing)
NGS (Next-Generation Sequencing), also known as massively parallel sequencing, is a state-of-the-art molecular diagnostic technology. For Beta Thalassemia Mutation Analysis, NGS is employed to comprehensively sequence the entire HBB gene (and sometimes adjacent regulatory regions) responsible for beta-thalassemia. Unlike traditional sequencing methods that analyze one DNA fragment at a time, NGS can simultaneously sequence millions of DNA fragments, enabling the detection of a vast array of known and novel point mutations, small insertions, and deletions across the entire gene. This provides a highly accurate, comprehensive, and sensitive approach to identifying the specific genetic defects causing beta-thalassemia, which is crucial for diagnosis, carrier screening, and 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 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

ALSO KNOWN AS:<br/> Beta Thalassemia Gene Sequencing (NGS)<br/> HBB Gene Mutation Analysis<br/> Beta Thalassemia Carrier Screening (Molecular)<br/> Thalassemia Diagnosis (Mole... Read more

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