Delta Beta-Thalassaemia Mutation Screening Test
Also known as: Delta Beta Thalassemia Mutation Analysis, HBB Gene Mutation Screening for Delta Beta Thalassaemia
Delta Beta-Thalassaemia Mutation Screening Test test available at DNA Labs India for ₹5,250. Uses End Point PCR on Peripheral blood samples. Results in Reports are typically available within 3-4 days after sample collection. You will be notified via email or WhatsApp when your report is ready.. 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 Delta Beta-Thalassaemia Mutation Screening is to detect mutations in the HBB gene that cause delta beta-thalassaemia. This test is indicated for individuals with clinical suspicion of thalassaemia, those with a family history of the disorder, and couples at risk of having affected children. It helps in confirming the diagnosis, determining carrier status, and guiding treatment and management decisions.
- Test Code
- 6084
- CPT Code
- 83890
- ICD Code
- D56.4
- Price
- ₹5,250
- Sample Type
- Peripheral blood
- Result Time
- Reports are typically available within 3-4 days after sample collection. You will be notified via email or WhatsApp when your report is ready.
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
No special preparation is required. However, 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.
Report Delivery
No specific precautions are needed after sample collection. You may resume normal activities immediately.
Timeline: Reports are typically available within 3-4 days after sample collection. You will be notified via email or WhatsApp when your report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Delta Beta-Thalassaemia Mutation Screening is to detect mutations in the HBB gene that cause delta beta-thalassaemia. This test is indicated for individuals with clinical suspicion of thalassaemia, those with a family history of the disorder, and couples at risk of having affected children. It helps in confirming the diagnosis, determining carrier status, and guiding treatment and management decisions.
How to Prepare
- Ensure the patient has a valid doctor's prescription.
- Use EDTA vacutainer for blood collection.
- Mix the blood gently with the anticoagulant by inverting the tube 8-10 times.
- Transport the sample to the laboratory at ambient temperature (15-25°C) within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Delta beta-thalassaemia is a rare genetic disorder that can present with mild to moderate anaemia. Early diagnosis through mutation screening is crucial for appropriate management and genetic counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed sample
- Incorrect container (e.g., heparin or citrate tube)
- Sample received after 72 hours without proper storage
- Inadequate sample volume
Understanding Your Results
Positive
Confirms the diagnosis of delta beta-thalassaemia. Genetic counselling is recommended.
Negative
No common mutations found. If clinical suspicion remains, consider extended gene sequencing.
Consult a physician or geneticist if you have symptoms suggestive of thalassaemia, a family history of the disorder, or if you are planning a pregnancy and belong to a high-risk group.
Limitations
- ⚠This test detects only common mutations; rare or novel mutations may not be identified.
- ⚠A negative result does not completely rule out delta beta-thalassaemia; further sequencing may be required if clinical suspicion is high.
- ⚠Test results should be interpreted in conjunction with clinical findings and haematological parameters.
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection
- ●Dizziness or fainting during blood collection
Interfering Factors
- ●Recent blood transfusion within 3 months may dilute the sample and affect mutation detection.
- ●Bone marrow transplantation may lead to false negative results.
- ●Insufficient or clotted blood sample may cause test failure.
Compare With Similar Tests
| Test | Delta Beta-Thalassaemia Mutation Screening | Beta-Thalassaemia Mutation Screening | Alpha-Thalassaemia Mutation Screening | Haemoglobin Electrophoresis | Complete Blood Count (CBC) |
|---|---|---|---|---|---|
| Comparison | Delta Beta-Thalassaemia Mutation Screening |
Frequently Asked Questions
What is Delta Beta-Thalassaemia?
What are the symptoms of Delta Beta-Thalassaemia?
How is Delta Beta-Thalassaemia diagnosed?
What is the cost of Delta Beta-Thalassaemia Mutation Screening at DNA Labs India?
Is fasting required for this test?
What sample is needed for the test?
How long does it take to get the results?
Can this test be done during pregnancy?
Is home sample collection available?
What does a positive result mean?
What does a negative result mean?
Who should consider 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.