B0042
Beta Thalassemia Mutation & Hemoglobinopathy Detection by HBB Gene Sequencing - PNDT and Parental
Test Details: β-thalassemia is a hereditary blood disorder, characterized by reduced or absent synthesis of the haemoglobin beta chain that cause microcytic hypochromic anemia. Prenatal diagnosis can be performed in the first or second trimester of pregnancy by DNA analysis. The complete coding region sequencing of HBB gene can detect all the common point mutations (SNVs) and small indels, as well as novel and rare mutations. 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 diagnosis.
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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 HBB Gene Sequencing - PNDT and Parental
16500
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