Beta Thalassemia Mutation Analysis

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    Pathology

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    Description

    This test is used to detect the genetic basis of beta globin disorders. When a couple is planning for a baby and if both of them are carriers of inherited globin disorder, this test is done as prenatal diagnosis for the couple.

    1) Screening for at-risk couples (prenatal diagnosis).
    2) Informed decisions about pregnancy- choice of termination in case of confirmed diagnosis (affected fetus).
    3) Identification of carriers in the family – untested siblings, relatives etc (“minor” cases appear normal).

    This test analyses DNA for the major mutations found in the HBB gene which represent the mutation spectrum found in Indian thalassemic subjects-(IVS 1-5 G>C, IVS 1-1 G>T, 619 bp deletion, Codon 15 G>A, Codon 30 G>A, FS 8/9 G, FS 41/42 – CTTT). Molecular analysis is done via PCR (amplification of DNA) and sequencing.

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