Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis) Test
Short Name: Hemophilia A Common Mutation Screening
Also known as: Factor VIII Intron 22 and Intron 1 Inversion Analysis, Hemophilia A Genetic Test
Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis) Test test available at DNA Labs India for ₹15,000. Uses End Point PCR on Blood samples. Results in 10-11 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to screen for the most common genetic mutations (inversions in Intron 22 and Intron 1 of the Factor VIII gene) that cause Hemophilia A. It aids in confirming diagnosis, identifying carriers, and guiding treatment and management strategies.
- Test Code
- 3437
- Price
- ₹15,000
- Sample Type
- Blood
- Result Time
- 10-11 days
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
No specific preparation is required. Ensure a doctor's prescription is available if applicable.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.
Timeline: 10-11 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to screen for the most common genetic mutations (inversions in Intron 22 and Intron 1 of the Factor VIII gene) that cause Hemophilia A. It aids in confirming diagnosis, identifying carriers, and guiding treatment and management strategies.
How to Prepare
- Use a sterile EDTA vacutainer (2ml) for sample collection.
- Label the sample correctly with patient details.
- Transport the sample at room temperature to the laboratory.
- Avoid hemolysis during collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for identifying common genetic mutations in Hemophilia A, aiding in early diagnosis, carrier detection, and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed samples
- Samples in incorrect containers (non-EDTA)
- Insufficient sample volume
- Unlabeled or mislabeled samples
Understanding Your Results
Detected
Confirms the presence of Factor VIII Intron 22 or Intron 1 inversion, indicating Hemophilia A. Consult a hematologist for management.
Not Detected
No common inversions found. Clinical correlation and additional genetic testing may be needed if symptoms persist.
Consult a doctor if results are positive, if bleeding symptoms continue despite negative results, or for genetic counseling and family planning advice.
Limitations
- ⚠This test only screens for common inversions; other rare mutations may require additional genetic testing.
- ⚠Results should be interpreted in conjunction with clinical history and other laboratory tests.
- ⚠Carrier status in females may not always be detectable with this test alone.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or fainting
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Sample hemolysis or contamination
- ●Improper sample storage or handling
- ●Use of incorrect anticoagulant (non-EDTA tube)
- ●Recent blood transfusions may affect results
Frequently Asked Questions
What is Hemophilia A Common Mutation Screening?
Why is this test important?
How is the test performed?
What do the results mean?
Is the test painful?
How long does it take to get results?
Is home collection available?
What is the cost of the test?
Who should get this test?
Can this test detect all Hemophilia A mutations?
What are the risks of the test?
How do I prepare for the test?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.