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B0040
Beta Thalassemia Mutation & Hemoglobinopathy Detection by ARMS PCR - PNDT and Parental
Number of Tests 5
Test Included IVS1-5 (G-C), IVS1-1 (G-T), FS41-42, FS8-9, 619 BPD
Test Details: Beta-Thalassemia is an inherited single gene disorder caused by mutations in beta globin chains, responsible for haemoglobin production. Individuals are tested for the five most common mutations IVS1-5(G-C), IVS1-1(G-T), FS41-42(-CTTT), FS8-9(+G) and 619 bp deletion and common hemoglobinopathies such as HbS, HbE and HbD by ARMS PCR method. Beta thal mutation in parents is indicative of high risk of beta thal major/minor in the fetus necessitating beta thal mutation analysis for prenatal diagnosis.
Category
Molecular Genetics
Pre-test Information
Clinical history, duly filled patient consent form, doctor prescription and signature on letterhead, registration number. For Pre-natal testing, along with Fetal blood, Parents Whole blood is Manadatory.
Report Delivery
5 working days
Gender
All
Organ
Blood
Beta Thalassemia Mutation & Hemoglobinopathy Detection by ARMS PCR - PNDT and Parental
16500
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