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Beta Thalassemia Mutation Detection (Pnd)

₹14,000.00

15 minutes
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The Beta Thalassemia Mutation Detection (Prenatal Diagnosis – PND) Test is a genetic test performed during pregnancy to detect mutations in the HBB gene responsible for Beta Thalassemia in the fetus. This test identifies whether the fetus has inherited one or two mutated copies of the beta-globin gene, which can cause beta thalassemia trait or disease.
The test is typically done by analyzing DNA from chorionic villus sampling (CVS) (usually performed between 10-13 weeks of pregnancy) or amniocentesis (usually done between 15-20 weeks). Molecular techniques like PCR and DNA sequencing are used to detect mutations.

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    Description

    Why It’s Done:

    This test is performed to:
    • Determine if the fetus is affected by Beta Thalassemia major or is a carrier
    • Provide early diagnosis so that parents can make informed decisions regarding the pregnancy
    • Help couples with a known family history of Beta Thalassemia or those identified as carriers through screening
    • Assist in genetic counseling and pregnancy management
    • Reduce the risk of having a child with severe Beta Thalassemia by allowing early intervention or planning

    Preparation:

    • The mother should be informed about the procedure risks and benefits of CVS or amniocentesis.
    • No special dietary or fasting requirements are generally needed before the procedure.
    • Inform the healthcare provider of any medications or health conditions.
    • Genetic counseling is recommended prior to the test to understand implications.
    • Ensure the parents have undergone carrier screening for Beta Thalassemia mutations before proceeding with PND.

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