Beta Thalassemia-9 Common Mutations Screening (Single) Test
Short Name: Beta Thalassemia 9 Mutations
Also known as: Beta Thalassemia Mutation Panel, HBB Gene Mutation Screening
Beta Thalassemia-9 Common Mutations Screening (Single) Test test available at DNA Labs India for ₹5,250. Uses End Point PCR, Agarose Gel Electrophoresis on Peripheral blood samples. Results in Reports are typically available within 3-4 working 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 identify the presence of nine common beta thalassemia mutations in the HBB gene. It is used for carrier screening in individuals with a family history of thalassemia, for diagnostic confirmation in symptomatic patients, and for prenatal testing in at-risk couples. The results help in genetic counseling, assessing the risk of passing the disorder to offspring, and guiding management strategies.
- Test Code
- 6053
- CPT Code
- 81257
- ICD Code
- D56.1
- Price
- ₹5,250
- Sample Type
- Peripheral blood
- Result Time
- Reports are typically available within 3-4 working days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR, Agarose Gel Electrophoresis
Sample Collection
No special preparation is required. A doctor's prescription is recommended. Inform your physician about any recent blood transfusions or bone marrow transplants.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample will be collected by a trained phlebotomist using a sterile EDTA vacutainer. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be transported to the laboratory for analysis. Results will be available in 3-4 days.
Timeline: Reports are typically available within 3-4 working days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify the presence of nine common beta thalassemia mutations in the HBB gene. It is used for carrier screening in individuals with a family history of thalassemia, for diagnostic confirmation in symptomatic patients, and for prenatal testing in at-risk couples. The results help in genetic counseling, assessing the risk of passing the disorder to offspring, and guiding management strategies.
How to Prepare
- No fasting required
- Avoid blood transfusion 2 weeks prior to test
- Carry doctor's prescription if available
- Ensure correct patient identification
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This screening is essential for couples planning a family, especially in regions with high prevalence. Early identification of carrier status enables informed reproductive decisions and prenatal diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted sample
- Insufficient volume
- Improperly labeled sample
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
Negative for the 9 common mutations. Beta thalassemia due to these mutations is unlikely, but other rare mutations may still be present.
Indicates beta thalassemia trait (minor). Usually asymptomatic or mild anemia. Genetic counseling recommended for family planning.
Indicates beta thalassemia major or intermedia. Requires specialist management and regular follow-up.
Consult a genetic counselor or hematologist if you are a carrier, planning a family, or have a family history of thalassemia. Also seek medical advice if you have unexplained anemia or symptoms suggestive of thalassemia.
Limitations
- ⚠This test detects only the 9 common mutations and may miss rare or novel mutations
- ⚠A negative result does not exclude beta thalassemia caused by other mutations
- ⚠Test is not intended for prenatal diagnosis without prior genetic counseling
- ⚠Results should be interpreted in conjunction with clinical and hematological findings
Risks & Considerations
- ●Minimal risk of bruising at the puncture site
- ●Rare possibility of infection or excessive bleeding
- ●Fainting or dizziness during blood draw
Interfering Factors
- ●Recent blood transfusion within 2 weeks may dilute patient's DNA and affect mutation detection
- ●Bone marrow transplantation can alter genetic results
- ●Contamination of sample during collection or handling
- ●Incorrect sample labeling or improper storage
Compare With Similar Tests
| Test | Beta Thalassemia-9 Common Mutations Screening (Single) | Complete Blood Count (CBC) | Hemoglobin Electrophoresis | HBB Gene Sequencing |
|---|---|---|---|---|
| Comparison | Beta Thalassemia-9 Common Mutations Screening (Single) |
Frequently Asked Questions
What is the cost of the Beta Thalassemia-9 Common Mutations Screening test?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the results?
What mutations are covered in this screening?
Is a doctor's prescription required?
Can this test be done during pregnancy?
What does a positive result mean?
Is home sample collection available?
How accurate is this test?
Can this test detect all types of beta thalassemia?
Who should get this test done?
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