Beta Thalassemia -12 Common Mutations Screening (Single) Test
Short Name: Beta Thalassemia 12 Mutations
Also known as: Beta Thalassemia Mutation Panel, Thalassemia Genetic Screening
Beta Thalassemia -12 Common Mutations Screening (Single) Test test available at DNA Labs India for ₹9,000. Uses End Point PCR on Peripheral blood samples. Results in Reports are typically delivered within 6-7 days after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to identify carriers of beta thalassemia by detecting 12 common mutations in the HBB gene. It helps in assessing the risk of passing the disorder to offspring, guiding reproductive planning, and enabling early intervention. For individuals with a family history or those from high-prevalence regions, this screening provides crucial information for genetic counseling and management.
- Test Code
- 6047
- CPT Code
- 81405
- ICD Code
- D56.1
- Price
- ₹9,000
- Sample Type
- Peripheral blood
- Result Time
- Reports are typically delivered within 6-7 days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
No special preparation is required. However, a doctor's prescription is necessary, except for surgery, pregnancy, or travel abroad cases. Inform the lab about any recent blood transfusions or bone marrow transplants.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample (2 ml) will be collected in an EDTA vacutainer by a trained phlebotomist. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered within 6-7 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify carriers of beta thalassemia by detecting 12 common mutations in the HBB gene. It helps in assessing the risk of passing the disorder to offspring, guiding reproductive planning, and enabling early intervention. For individuals with a family history or those from high-prevalence regions, this screening provides crucial information for genetic counseling and management.
How to Prepare
- Ensure the prescription is provided before sample collection
- Avoid hemolysis of the sample
- Maintain sample at ambient temperature during transport
- Do not freeze the sample
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This screening is crucial for couples planning pregnancy, especially with a family history of thalassemia. Early detection helps in informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect container (e.g., heparin instead of EDTA)
- Insufficient sample volume
- Sample received without proper labeling or prescription
Understanding Your Results
Negative
Low risk of being a carrier for the tested mutations. However, rare mutations may still be present.
Carrier (Beta thalassemia trait)
Individual is a carrier and may have mild microcytic anemia. At risk of having affected children if partner is also a carrier.
Affected (Beta thalassemia major or intermedia)
Individual likely has clinically significant thalassemia requiring medical management.
Consult a genetic counselor or hematologist if you are found to be a carrier, if you have a family history of thalassemia, or if you are planning a pregnancy and belong to a high-risk group.
Limitations
- ⚠This test detects only the 12 most common mutations; rare or novel mutations may not be identified
- ⚠A negative result does not completely rule out beta thalassemia, as other mutations may be present
- ⚠Test is not intended for diagnosis of thalassemia major or intermedia; clinical correlation is required
- ⚠Genetic counseling is recommended for interpretation of results
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare chance of infection
- ●Psychological impact of carrier status
Interfering Factors
- ●Recent blood transfusion may dilute the patient's DNA, affecting mutation detection
- ●Bone marrow transplantation can alter the genetic profile
- ●Contamination of sample during collection or handling
- ●Insufficient DNA quantity or quality
Compare With Similar Tests
| Test | Beta Thalassemia -12 Common Mutations Screening (Single) | Complete Blood Count (CBC) | Hemoglobin Electrophoresis | Beta Thalassemia 12 Mutations Screening | Next-Generation Sequencing (NGS) for HBB gene |
|---|---|---|---|---|---|
| Comparison | Beta Thalassemia -12 Common Mutations Screening (Single) |
Frequently Asked Questions
What is the cost of the Beta Thalassemia -12 Common Mutations Screening (Single) test?
What does this test detect?
Who should get this test done?
Is fasting required before the test?
What sample is needed?
How long does it take to get results?
Is a doctor's prescription required?
Can this test be done during pregnancy?
What does a positive result mean?
Does a negative result rule out beta thalassemia?
Is home sample collection available?
How should I book this 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.