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XMN Polymorphism (Thalassaemia) (Form NIBD)

Specimen Required

3cc EDTA Patient & Father & Mother

Fasting Required

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Purpose of the Test

XMN polymorphism testing is performed to detect thalassemia, a group of inherited blood disorders that affect the production of hemoglobin.

When this test is required

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

What the Test Detects

The test identifies the XMN polymorphism, which is a genetic variation in the intron 2 of the HBA2 gene, associated with beta-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

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.