Mumbai (MMR)
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A0175
Alpha Thalassemia Mutation Detection, PNDT
Number of Tests 5
Test Included α3.7, α4.2, αFIL, αSEA, αTHAI PNDT
Test Details: Alpha thal is an autosomal recessive inherited disorder caused by mutations in the HBA1 and HBA2 gene responsible for haemoglobin production leading to reduced or absent production of alpha globin chains. This test is used to detect the genetic base of alpha globin disorders. The disease is characterized by anemia, hepatosplenomegaly and iron overload due to repeated blood transfusion. α+-thalassemia is caused by single-gene deletions such as 3.7 and 4.2 whereas α0-thalassemia is caused by double-gene deletions such as -20.5, SEA, MED, THAI and FIL. An impaired production of alpha globin chains may lead to four clinical conditions : silent carrier, alpha trait, HbH disease and Hb Bart’s hydrops fetalis syndrome. Pre-natal Diagnostic Testing helps to detect a risk for having a fetus affected with clinically significant thalassemia in couples where both partners carry an inherited alpha globin chain disorder.
Category
Molecular Genetics
Pre-test Information
Clinical details & history is mandatory. Consent form, Duly filled Form E, parental HPLC reports.
Report Delivery
5 working days
Gender
All
Organ
Blood
Alpha Thalassemia Mutation Detection, PNDT
9000
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