Haemophilia A (F8 Intron 22 Inversion) Test: Booking, Price, and Results

This panel uses a method called MLPA (multiplex ligation-dependent probe amplification) to analyse the F8 gene at a molecular level. The following parameters are examined.

Both inversion subtypes disrupt normal Factor VIII production, leading to severely reduced or absent clotting activity.

Preparation for this test is straightforward. No dietary changes are needed, but sharing complete clinical details before the test is essential.

Do You Need to Fast?

No fasting is required before this test. You may eat and drink normally on the day of sample collection.

Practical Tips Before Your Test

• Provide a detailed clinical history, including symptoms, previous test results, and family history, as this information helps with test interpretation.
• Inform the laboratory if you or the patient has previously received an allogeneic bone marrow transplant (a transplant using cells from a different person), as this can interfere with test results.
• It is strongly recommended that the family's disease-causing F8 mutation be identified in an affected family member before testing other at-risk relatives.
• Disclose all relevant medical information to the collecting professional for accurate interpretation.

Step-by-Step Procedure

Multiple sample types may be collected depending on whether the test is for a child, adult, or prenatal diagnosis. Collection procedures for each are described below.

Peripheral Blood Collection

1. A healthcare professional verifies patient identity and reviews the submitted clinical history.
2. A blood sample is drawn from a vein in the arm using a sterile needle into an EDTA tube.
3. The sample is labelled, stored under refrigeration (2 to 8 degrees celsius), and dispatched to the laboratory.
4. In the laboratory, DNA is extracted from the blood cells and analysed using MLPA.
5. An interpretive report is generated and delivered within 15 days.

Chorionic Villus (CVS), Amniotic Fluid, or Cord Blood Collection

1. A specialist confirms that the disease-causing F8 mutation, including an intron 22 inversion when applicable, has been identified in the family before proceeding with prenatal testing.
2. The appropriate prenatal sample (CVS tissue, amniotic fluid, or cord blood) is collected by a qualified clinical specialist under sterile conditions.
3. The sample is placed in a sterile container, stored under refrigeration, and dispatched promptly to the laboratory.
4. DNA is extracted from the sample and analysed using MLPA for the intron 22 inversion.
5. An interpretive report is generated and delivered within 15 days.

Factors That Can Affect Accuracy

• A previous allogeneic bone marrow transplant, as donor DNA in blood cells can interfere with analysis.
• Incomplete or inaccurate clinical history provided at the time of testing.
• Germline mosaicism, where only some cells carry the mutation, which may affect family recurrence risk estimates.
• Insufficient quantity or poor quality of the collected DNA sample.

Because this is a genetic test, the underlying mutation cannot be altered through lifestyle changes. The following general steps support overall wellbeing for those affected:

• Individuals diagnosed with haemophilia A should maintain regular follow-up with a haematologist for ongoing management.
• Genetic counselling is recommended for affected individuals and family members who are considering having children.
• Female carriers, particularly those with reduced factor VIII activity, should discuss their situation with a specialist before undergoing surgery or invasive procedures.

Follow these steps to book your test online:

1. Select the test on the Lupin Diagnostics website.
2. Choose your city and preferred time slot.
3. Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
4. Receive your report via email or WhatsApp within the stipulated turnaround time.