Inversion of Factor Vlll Intron 22 (Form NIBD)

Specimen Required

3cc EDTA Patient & Father & Mother

Fasting Required

Purpose of the Test

The test is performed to detect the presence of a genetic mutation known as the inversion of Factor VIII Intron 22. This mutation is associated with Hemophilia A, a bleeding disorder caused by a deficiency of clotting Factor VIII.

When this test is required

The test is requested when an individual has symptoms suggestive of Hemophilia A or has a family history of the disorder. It may also be ordered when a female carrier of the Hemophilia A gene is planning a pregnancy or when prenatal testing is requested.

What the Test Detects

The test is used to detect the presence of the inversion of Factor VIII Intron 22, a genetic mutation that can cause Hemophilia A.

Preparation for the Test

No special preparation is needed for the test.

Sample Requirements

The test requires a blood sample, which is usually collected from a vein in the arm.

Additional Notes

Hemophilia A is an inherited disorder that primarily affects males. In some cases, females can be carriers of the disorder and may have mild symptoms. The severity of the condition can vary depending on the level of Factor VIII in the blood, which can be measured through a separate test. Genetic counseling is recommended for individuals with a family history of Hemophilia A or those who have tested positive for the mutation.

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