Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis) Test
Short Name: Hemophilia A Intron 22 Inversion
Also known as: Factor VIII Intron 22 Inversion Test, Hemophilia A Mutation Analysis, F8 Gene Inversion Screening
Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis) Test test available at DNA Labs India for ₹12,000. Uses End Point PCR, Inversion-specific PCR on Peripheral blood samples. Results in Reports are available within 10-11 days after sample collection.. 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 detect the intron 22 inversion mutation in the F8 gene, which is the most common cause of severe Hemophilia A. Identifying this mutation helps confirm the diagnosis, determine the severity, and guide management. It also enables carrier detection in female relatives and supports prenatal diagnosis in affected families.
- Test Code
- 6108
- CPT Code
- 81405
- ICD Code
- D66
- Price
- ₹12,000
- Sample Type
- Peripheral blood
- Result Time
- Reports are available within 10-11 days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR, Inversion-specific PCR
Sample Collection
No special preparation is required. A doctor's prescription is needed. Inform your doctor about any medications, especially anticoagulants.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and generally painless.
Report Delivery
You may resume normal activities immediately. Apply pressure to the puncture site to prevent bruising.
Timeline: Reports are available within 10-11 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect the intron 22 inversion mutation in the F8 gene, which is the most common cause of severe Hemophilia A. Identifying this mutation helps confirm the diagnosis, determine the severity, and guide management. It also enables carrier detection in female relatives and supports prenatal diagnosis in affected families.
How to Prepare
- Use EDTA vacutainer (2 ml)
- Maintain ambient temperature during transport
- Avoid hemolysis
- Label the sample properly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Intron 22 inversion is the most common cause of severe Hemophilia A. Early genetic confirmation helps in carrier detection and prenatal diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted sample
- Hemolyzed sample
- Incorrect container
- Sample without proper labeling
- Sample received after prolonged delay
Understanding Your Results
Positive
Intron 22 inversion detected. Confirms severe Hemophilia A. Genetic counseling recommended.
Negative
No intron 22 inversion detected. Other F8 mutations may be responsible. Further testing may be needed.
Consult a haematologist or geneticist if you have a family history of Hemophilia A, experience unexplained bleeding, or if you are a female relative of an affected individual and wish to know your carrier status.
Limitations
- ⚠This test detects only the intron 22 inversion mutation, not other F8 gene mutations
- ⚠Negative result does not rule out Hemophilia A caused by other mutations
- ⚠Not recommended for mild or moderate Hemophilia A without prior genetic analysis
- ⚠Results should be interpreted in conjunction with clinical findings and family history
Risks & Considerations
- ●Minimal risk of bruising at puncture site
- ●Rare risk of infection
- ●Slight discomfort during blood draw
Interfering Factors
- ●Sample hemolysis or clotting
- ●Insufficient DNA quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute patient's DNA)
Compare With Similar Tests
| Test | Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis) | Factor VIII Assay | F8 Gene Sequencing | Intron 1 Inversion Analysis |
|---|---|---|---|---|
| Comparison | Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis) |
Frequently Asked Questions
What is Hemophilia A?
What is intron 22 inversion?
Who should get this test?
Is fasting required?
What sample is needed?
How long does it take to get results?
Is home sample collection available?
What does a positive result mean?
Can this test detect all Hemophilia A mutations?
Is a doctor's prescription required?
What is the cost of the test?
Is the test covered by insurance?
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