B0039
Beta Thalassemia Mutation & Hemoglobinopathy Detection by ARMS PCR - PNDT
Test Details: Thalassemia and hemoglobinopathies are disorders related to hemoglobin pathophysiology. Although hemoglobinopathies and thalassemia's are two genetically distinct disease groups, the clinical manifestations of both include anemia of variable severity and variable pathophysiology. The clinical significance of this assay is to identify disease-causing mutations in individuals affected with beta-thalassemia; to identify carriers in high-risk ethnic group or people with positive family history & for Prenatal diagnosis of beta-thalassemia. The ARMS multiplex system used in this assay is reliable, cost effective, fast and most applicable for mutation screening of Thalassemia. This assay is used for the detection of five most common mutations found in the Indian population Individuals are tested for the five most common mutations found in the Indian population viz. IVS1-5(G-C), IVS1-1(G-T), FS41-42(-CTTT), FS8-9(+G) and 619 bp deletion.
Category
Molecular Genetics
Pre-test Information
Clinical history, duly filled patients consent form, doctor’s prescription and signature on letterhead, registration number, Parental 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 ARMS PCR - PNDT
2750
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