DNA Mutation for Alpha Thalassaemia in Blood With History (Form NIBD)

Specimen Required

3cc EDTA Patient & Father & Mother

Fasting Required

Purpose of the Test

Alpha thalassemia is a genetic disorder that affects the production of hemoglobin, a protein that carries oxygen in red blood cells. This test helps in identifying DNA mutations responsible for alpha thalassemia.

When this test is required

The test is usually requested when a person has symptoms of anemia, has a family history of alpha thalassemia, or belongs to high-risk ethnic groups.

What the Test Detects

The test identifies specific mutations in the alpha-globin gene that lead to alpha thalassemia.

Preparation for the Test

There is no specific test preparation needed. However, it is recommended to inform the healthcare provider about any medications or supplements being taken before the test.

Sample Requirements

The test requires a blood sample, usually obtained through a simple blood draw.

Additional Notes

Alpha thalassemia is a genetic condition and cannot be cured. However, proper management and treatment can help alleviate symptoms and prevent complications. It is recommended to discuss the test results with a healthcare provider or genetic counselor for further guidance.

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