Short Description

Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion analysis) is performed using End Point PCR methodology. Sample that have to be given is Peripheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 10-11 days

PreTest Information

Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion analysis) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Hemophilia A Common Mutation Screening

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Introduction

Hemophilia A is a genetic disorder caused by a deficiency in clotting factor VIII. It is an X-linked recessive disorder, which means that it primarily affects males, although females can also be carriers of the gene. Hemophilia A is the most common type of hemophilia, affecting approximately 1 in 5,000-10,000 males worldwide.

Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion analysis)

At DNA Labs India, we offer Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion analysis) at an affordable cost of INR 12000. This test is used to identify a specific inversion mutation in the factor VIII gene that is responsible for approximately 45% of cases of severe Hemophilia A. By identifying this mutation, we can provide a more accurate diagnosis and better treatment options for patients with Hemophilia A.

Symptoms of Hemophilia A

• Excessive bleeding from cuts or injuries
• Bruising easily
• Joint pain and swelling
• Bleeding into muscles and soft tissues
• Bleeding into the brain and other internal organs (in severe cases)

Diagnosis of Hemophilia A

Diagnosis of Hemophilia A involves a physical examination, medical history, and blood tests to measure the levels of clotting factors in the blood. Hemophilia A is usually diagnosed in infancy or early childhood, but it can also be diagnosed later in life if symptoms are present.