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Beta Thalassemia Mutation Detection

₹6,000.00

15 minutes
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The Beta Thalassemia Mutation Detection Test is a genetic test used to identify mutations in the HBB gene, which encodes the beta-globin chain of hemoglobin. Mutations in this gene can lead to Beta Thalassemia, a hereditary blood disorder that reduces the production of functional hemoglobin.
The test is usually performed using PCR-based methods, DNA sequencing, or other molecular techniques to detect common and rare mutations associated with beta thalassemia.

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    Description

    Why It’s Done:

    This test is recommended for:
    • Diagnosing Beta Thalassemia (major, intermedia, or trait/carrier state)
    • Carrier screening, especially in individuals with a family history of thalassemia or in populations with high prevalence
    • Prenatal diagnosis for couples at risk of having a child with beta thalassemia major
    • Genetic counseling and family planning
    • Confirming diagnosis in individuals with:
    o Microcytic anemia (small red blood cells)
    o Abnormal hemoglobin electrophoresis results
    o Unexplained low hemoglobin or MCV (mean corpuscular volume)
    The test helps differentiate thalassemia from iron deficiency anemia and other hemoglobinopathies.

    Preparation:

    • No special preparation (e.g., fasting) is usually needed.
    • A blood sample is drawn from a vein for DNA analysis.
    • Inform your doctor if you’ve had recent blood transfusions, as they may affect interpretation of related hematological tests.
    • Family history of thalassemia or consanguinity should be shared with the healthcare provider to aid in accurate diagnosis and genetic counseling

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