Alpha Thalassemia Mutation Screening (3 Common Mutations) Test
Short Name: Alpha Thalassemia Mutation Screening
Also known as: Alpha Thalassemia Genetic Test, Alpha Thal Mutation Analysis
Alpha Thalassemia Mutation Screening (3 Common Mutations) Test test available at DNA Labs India for ₹7,500. Uses End Point PCR on Peripheral blood samples. Results in Reports are typically available within 7-8 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
To screen for three common mutations in the alpha thalassemia genes (HBA1 and HBA2) to identify carriers, confirm diagnosis, and support genetic counseling and family planning.
- Test Code
- 2944
- Price
- ₹7,500
- Sample Type
- Peripheral blood
- Result Time
- Reports are typically available within 7-8 days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
A doctor's prescription is required, except for surgery, pregnancy, or travel abroad cases. No fasting is needed. Inform the healthcare provider about any medications or medical conditions.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using standard venipuncture procedure with an EDTA vacutainer.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.
Timeline: Reports are typically available within 7-8 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To screen for three common mutations in the alpha thalassemia genes (HBA1 and HBA2) to identify carriers, confirm diagnosis, and support genetic counseling and family planning.
How to Prepare
- Ensure a valid doctor's prescription is available
- No fasting required prior to sample collection
- Inform the phlebotomist about any bleeding disorders or medications
- Wear loose clothing for easy access to the arm
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for couples with a family history of thalassemia to assess carrier status, guide family planning, and enable early intervention for affected pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample container or labeling
Understanding Your Results
If you experience persistent symptoms of anemia, have a family history of thalassemia, or receive a positive screening result, consult a hematologist or genetic counselor for further evaluation and management.
Limitations
- ⚠Only screens for three common mutations; other rare mutations may not be detected
- ⚠Does not detect beta thalassemia mutations
- ⚠Results require interpretation by a qualified healthcare professional
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection or fainting
- ●No significant long-term risks associated with the test
Interfering Factors
- ●Sample hemolysis
- ●Contamination during collection or processing
- ●Improper sample storage or transport
Compare With Similar Tests
| Test | Alpha Thalassemia Mutation Screening (3 Common Mutations) | Hemoglobin Electrophoresis | Complete Blood Count (CBC) | Iron Studies | Beta Thalassemia Mutation Screening |
|---|---|---|---|---|---|
| Comparison | Alpha Thalassemia Mutation Screening (3 Common Mutations) |
Frequently Asked Questions
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