Thalassemia Beta Trio Prenatal Mutation Detection Test
Short Name: Beta Thalassemia Trio Prenatal
Also known as: Beta Thalassemia Trio Prenatal HBB Mutation Test, Prenatal Beta Thalassemia Mutation Analysis
Thalassemia Beta Trio Prenatal Mutation Detection Test test available at DNA Labs India for ₹21,060. Uses PCR, Sequencing on Whole blood (parents) and amniotic fluid (fetus) samples. Results in Reports are delivered within 1 week. Samples received by Monday 11 am generate reports by Friday.. 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
This test is useful for detection of mutations in the HBB gene linked to Beta Thalassemia. This assay detects more than 100 different mutations in the Promoter region, Exon 1, IVS-I & Exon 2 and part of IVS-II of the HBB Gene. It also detects the deletion of 690 bp in IVS II and Exon 3. This assay checks for maternal cell contamination in amniotic fluid.
- Test Code
- 3685
- ICD Code
- D56.1
- Price
- ₹21,060
- Sample Type
- Whole blood (parents) and amniotic fluid (fetus)
- Result Time
- Reports are delivered within 1 week. Samples received by Monday 11 am generate reports by Friday.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
Prenatal genetic counseling is recommended before testing. Duly filled Prenatal Genetic testing consent form (Form 18) and Genomics Clinical information requisition form (Form 20) are mandatory.
Method: Venepuncture for parents; amniocentesis for fetal sample
Laboratory Analysis
Blood samples are drawn from both parents. The fetal sample is collected via amniocentesis under ultrasound guidance by an experienced obstetrician.
Report Delivery
After amniocentesis, monitor for pain, bleeding, or fluid leakage. Contact your doctor immediately if any unusual symptoms occur. Blood collection sites can be pressed with sterile gauze.
Timeline: Reports are delivered within 1 week. Samples received by Monday 11 am generate reports by Friday.
Patient Instructions
About This Test
Who Should Get This Test
This test is useful for detection of mutations in the HBB gene linked to Beta Thalassemia. This assay detects more than 100 different mutations in the Promoter region, Exon 1, IVS-I & Exon 2 and part of IVS-II of the HBB Gene. It also detects the deletion of 690 bp in IVS II and Exon 3. This assay checks for maternal cell contamination in amniotic fluid.
How to Prepare
- Duly filled Form 18 (Prenatal Genetic testing consent form) and Form 20 (Genomics Clinical information requisition form) are mandatory
- Ship refrigerated; do not freeze
- Whole blood in lavender top (EDTA) tubes from both parents
- Amniotic fluid in sterile screw capped container
- Label all tubes with patient name, relation, and collection date
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Prenatal trio testing provides a definitive molecular answer for couples at risk for beta thalassemia and facilitates informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improper labelling or sample mismatch
- Hemolysed blood samples
- Frozen amniotic fluid or frozen blood samples
- Insufficient sample volume
- Missing consent or requisition forms
- Amniotic fluid visibly contaminated with maternal blood
Understanding Your Results
No HBB mutation detected in fetal sample
Fetus is unlikely to be affected; carrier status can be excluded if both parents are mutation-negative.
Single HBB mutation detected in fetal sample
Fetus is a carrier of beta thalassemia trait; usually asymptomatic.
Two HBB mutations detected in fetal sample
Fetus is affected with beta thalassemia major or intermediate; requires specialist counselling.
Maternal cell contamination detected
Fetal result may be unreliable; repeat sampling and analysis is recommended.
If the fetal analysis is positive, consult a clinical geneticist and obstetrician at the earliest for genetic counselling and management planning.
Limitations
- ⚠Detects only the mutations included in the panel, not all possible HBB mutations
- ⚠Large deletions or complex rearrangements other than the reported 690 bp deletion may not be detected
- ⚠Results require adequate paternal blood sample for correct trio analysis
- ⚠Interpretation should be done by a clinical geneticist or molecular specialist
Risks & Considerations
- ●Amniocentesis-related risks such as mild cramping, amniotic fluid leakage, infection, or injury to the fetus (rare)
- ●Blood collection-related minor bruising or hematoma at the venepuncture site
Interfering Factors
- ●Maternal blood contamination of amniotic fluid sample
- ●Previous bone marrow transplantation in a parent
- ●Rare or novel HBB mutations not included in the assay
- ●Low fetal cell content in amniotic fluid
Frequently Asked Questions
What is the Thalassemia Beta Trio Prenatal Mutation Detection Test?
When is this test recommended?
What is the cost of the test at DNA Labs India?
What samples are collected for this test?
Is fasting required for this test?
How long will the test report take?
How is the fetal sample obtained?
What does a positive result mean?
Can this test detect all beta thalassemia mutations?
Are there any risks to the mother or fetus?
How can I book this test at DNA Labs India?
Is genetic counseling available with this test?
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