Beta Thalassemia-HBB Deletion/Duplication Analysis Test
Short Name: HBB Del/Dup Analysis
Also known as: HBB gene deletion/duplication, Beta globin gene copy number analysis, Thalassemia genetic testing
Beta Thalassemia-HBB Deletion/Duplication Analysis Test test available at DNA Labs India for ₹10,500. Uses MLPA on Amniotic fluid / Chorionic villi / Cord blood / Peripheral blood samples. Results in Results are typically available within 7-10 days after the sample is received by the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect copy number variations (deletions or duplications) in the HBB gene. It helps in confirming the diagnosis of beta thalassemia, determining the severity of the condition, identifying carriers, and providing crucial information for genetic counseling and prenatal testing. It is particularly useful when sequencing results are negative but clinical suspicion remains high.
- Test Code
- 6052
- CPT Code
- 81405
- ICD Code
- D56.1
- Price
- ₹10,500
- Sample Type
- Amniotic fluid / Chorionic villi / Cord blood / Peripheral blood
- Result Time
- Results are typically available within 7-10 days after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- MLPA
Sample Collection
No special preparation required. A doctor's prescription is recommended. For prenatal samples, follow the referring physician's instructions.
Method: Venipuncture or as per specimen type
Laboratory Analysis
Peripheral blood: standard venipuncture. For amniotic fluid/CVS, the procedure is performed by a specialist under ultrasound guidance.
Report Delivery
No specific aftercare required. Patients can resume normal activities immediately.
Timeline: Results are typically available within 7-10 days after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect copy number variations (deletions or duplications) in the HBB gene. It helps in confirming the diagnosis of beta thalassemia, determining the severity of the condition, identifying carriers, and providing crucial information for genetic counseling and prenatal testing. It is particularly useful when sequencing results are negative but clinical suspicion remains high.
How to Prepare
- Peripheral blood: Collect 2 ml in EDTA vacutainer
- Amniotic fluid: Collect in sterile container
- Chorionic villi: Collect in sterile container with normal saline
- Cord blood: Collect in EDTA vacutainer
- Transport at cool pack/ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for identifying large deletions or duplications in the HBB gene that are not detected by sequencing. It helps in accurate diagnosis, carrier detection, and prenatal counseling for beta thalassemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect container
- Insufficient sample volume
- Sample not labeled properly
- Sample received after prolonged transit time
Understanding Your Results
No deletion/duplication detected
No large copy number changes in HBB gene. Further sequencing may be needed to identify point mutations.
Heterozygous deletion/duplication
Indicates carrier status (thalassemia minor) if the variant is pathogenic. Genetic counseling recommended.
Homozygous deletion/duplication
Indicates beta thalassemia major or intermedia depending on the specific variant. Clinical correlation required.
Consult a geneticist or hematologist if you have a family history of beta thalassemia, if you are a carrier, or if you have symptoms of anemia. Also, consult for prenatal testing if you are at risk.
Limitations
- ⚠This test does not detect point mutations or small insertions/deletions
- ⚠Results should be interpreted in conjunction with clinical findings and other tests
- ⚠Rare variants may not be detected by MLPA
- ⚠Not a substitute for complete beta thalassemia sequencing
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the blood draw site
- ●For amniocentesis/CVS: small risk of miscarriage or infection (discuss with your doctor)
- ●Emotional stress due to genetic testing results
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Sample degradation due to improper handling
- ●Recent blood transfusion (may dilute fetal cells in cord blood)
- ●Insufficient DNA quantity or quality
Compare With Similar Tests
| Test | Beta Thalassemia-HBB Deletion/Duplication Analysis | Beta Thalassemia Sequencing | Hemoglobin Electrophoresis | Complete Blood Count (CBC) |
|---|---|---|---|---|
| Comparison | Beta Thalassemia-HBB Deletion/Duplication Analysis |
Frequently Asked Questions
What is Beta Thalassemia-HBB Deletion/Duplication Analysis?
Who should get this test?
What is the cost of the test?
What sample is required?
Is fasting required?
How long does it take to get results?
What does a positive result mean?
Can this test detect all beta thalassemia mutations?
Is home sample collection available?
Is a doctor's prescription required?
What is the difference between this test and HBB sequencing?
Can this test be done during pregnancy?
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