DNA Mutation for Beta Thalassaemia in CVS (Form NIBD)

Specimen Required

Vignal Tissue+3CC EDTA Patient (3cc EDTA Father & Mother)

Fasting Required

Purpose of the Test

The DNA mutation test for Thalassemia in CVS (Chorionic Villus Sampling) is performed to identify specific mutations in the fetus’s DNA that can cause Thalassemia, a genetic disorder that affects the production of hemoglobin.

When this test is required

This test is usually requested when there is a family history of Thalassemia, the parents are carriers of Thalassemia genes, or when the mother is at high risk of carrying a fetus with Thalassemia.

What the Test Detects

The test detects specific mutations in the fetal DNA that are known to cause Thalassemia. Different mutations are associated with different types and severity of Thalassemia.

Preparation for the Test

No special preparation is required for this test. The mother may be advised to avoid strenuous activity for 24 hours after the procedure.

Sample Requirements

The sample is collected through a CVS procedure, where a small sample of chorionic villus tissue is collected from the placenta between the 10th and 14th week of pregnancy.

Additional Notes

The DNA mutation test for Thalassemia in CVS is a prenatal test and is usually performed in the first trimester of pregnancy. The test has a small risk of miscarriage, bleeding, or infection, and the mother should discuss the potential risks and benefits of the test with her healthcare provider. Genetic counseling may also be recommended to help the couple understand the implications of the test results and make informed decisions about their pregnancy.

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