B0041
Beta Thalassemia Mutation & Hemoglobinopathy Detection by HBB Gene Sequencing - PNDT
Test Details: Beta-Thalassemia is an inherited single gene disorder caused by mutations in beta globin chains, responsible for haemoglobin production. The samples that are negative for 5 common mutations are then subjected to HBB gene sequencing. The test helps in identifying haemoglobin variants that are not easily diagnosed by electrophoresis/HPLC. The presence of Beta Thalassemia mutations in both the parents is indicative of high risk of Beta Thalassemia major/minor in fetus, necessitating mutation analysis of pre-natal sample.
Category
Molecular Genetics
Pre-test Information
Clinical history, duly filled patient consent form, doctor prescription and signature on letterhead, registration number, Parental sample in EDTA Whole Blood and Mutation report is mandatory (in case of AF or CVS sample).
Report Delivery
5 working days
Gender
All
Organ
Blood
Beta Thalassemia Mutation & Hemoglobinopathy Detection by HBB Gene Sequencing - PNDT
16500
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