Prenatal Delta Beta-Thalassaemia Mutation Screening Test
Also known as: Prenatal Delta Beta Thalassemia Mutation Test, Delta Beta Thalassemia Prenatal Screening
Prenatal Delta Beta-Thalassaemia Mutation Screening Test test available at DNA Labs India for ₹7,500. Uses End Point PCR, Sanger Sequencing on Amniotic fluid / Chorionic villi / Peripheral blood samples. Results in Reports are delivered within 5-6 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 purpose of prenatal delta beta-thalassaemia mutation screening is to determine whether a developing fetus has inherited two mutated copies of the HBB gene, which would result in delta beta-thalassaemia major. This information is vital for at-risk couples to make informed reproductive decisions, including continuation or termination of pregnancy, and to prepare for potential medical needs of the child. The test also identifies carrier status, which is important for genetic counseling of the family.
- Test Code
- 6086
- CPT Code
- 81435
- ICD Code
- Z13.89
- Price
- ₹7,500
- Sample Type
- Amniotic fluid / Chorionic villi / Peripheral blood
- Result Time
- Reports are delivered within 5-6 days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR, Sanger Sequencing
Sample Collection
No special preparation is required. However, a doctor's prescription is mandatory for this test. For amniocentesis or CVS, the procedure is performed by a qualified obstetrician under ultrasound guidance.
Method: Amniocentesis / CVS / Venipuncture
Laboratory Analysis
For blood sample, a standard venipuncture is performed. For amniocentesis, a thin needle is inserted through the abdomen into the amniotic sac to collect fluid. For CVS, a catheter is inserted through the cervix or abdomen to obtain chorionic villi. Local anesthesia may be used.
Report Delivery
After amniocentesis or CVS, the patient may experience mild cramping or spotting. Rest is advised for 24 hours. Avoid strenuous activity. Contact your doctor if you experience fever, severe pain, or fluid leakage.
Timeline: Reports are delivered within 5-6 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of prenatal delta beta-thalassaemia mutation screening is to determine whether a developing fetus has inherited two mutated copies of the HBB gene, which would result in delta beta-thalassaemia major. This information is vital for at-risk couples to make informed reproductive decisions, including continuation or termination of pregnancy, and to prepare for potential medical needs of the child. The test also identifies carrier status, which is important for genetic counseling of the family.
How to Prepare
- Ensure the sample is collected in a sterile container or EDTA vacutainer as appropriate.
- Label the sample with patient's name, date, and time of collection.
- Transport the sample to the laboratory at ambient temperature (15-25°C) within 24 hours.
- Do not freeze the sample.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Prenatal screening for delta beta-thalassaemia is crucial for at-risk couples. Early detection allows informed reproductive choices and timely management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample received after prolonged transit time (>48 hours)
- Unlabeled or mislabeled sample
Understanding Your Results
Negative
No mutations detected. Low risk of delta beta-thalassaemia.
Clinical action: No further action required unless other risk factors exist.
Carrier
One mutation detected. The fetus is a carrier but not affected.
Clinical action: Genetic counseling for the family; no medical intervention needed for the fetus.
Affected
Two mutations detected. The fetus has delta beta-thalassaemia major.
Clinical action: Discuss management options with a hematologist and genetic counselor; consider prenatal or postnatal treatment plans.
Consult your obstetrician or genetic counselor if you have a family history of thalassaemia, if you and your partner are carriers, or if you have any concerns about your pregnancy. Also, consult if you experience any complications after the procedure.
Limitations
- ⚠This test detects only common mutations in the HBB gene; rare mutations may not be identified.
- ⚠Results should be interpreted in conjunction with clinical and hematological findings.
- ⚠Amniocentesis and CVS carry a small risk of miscarriage (0.5-1%).
- ⚠Genetic counseling is recommended for result interpretation.
Risks & Considerations
- ●Miscarriage (for amniocentesis/CVS)
- ●Infection
- ●Bleeding or cramping
- ●Amniotic fluid leakage
Interfering Factors
- ●Maternal cell contamination in fetal samples
- ●Insufficient DNA quantity or quality
- ●Rare or novel mutations not covered by the assay
- ●Consanguinity may increase risk of rare mutations
Compare With Similar Tests
| Test | Prenatal Delta Beta-Thalassaemia Mutation Screening | Beta-Thalassaemia Carrier Screening | Hemoglobin Electrophoresis | Complete Blood Count (CBC) |
|---|---|---|---|---|
| Comparison | Prenatal Delta Beta-Thalassaemia Mutation Screening |
Frequently Asked Questions
What is the cost of Prenatal Delta Beta-Thalassaemia Mutation Screening?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get results?
Can this test be done at home?
What is the accuracy of this test?
Who should undergo this screening?
Is a doctor's prescription required?
What is the difference between carrier and affected?
Can this test be done in early pregnancy?
Are there any risks to the fetus?
What should I do if the result is affected?
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