Thalassemia Beta Complete Gene Analysis with MCC Test
Short Name: Beta Thalassemia Gene Analysis with MCC
Also known as: Beta Thalassemia Gene Analysis, HBB Gene Mutation Analysis, Thalassemia Screening with MCC
Thalassemia Beta Complete Gene Analysis with MCC Test test available at DNA Labs India for ₹21,000. Uses Next Generation Sequencing, Fragment Analysis on Whole blood (Maternal) and Amniotic fluid or CVS samples. Results in Reports are available within 21 working days from sample receipt.. 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 assay is useful to check for uncommon mutations in the HBB gene associated with Thalassemia Beta. Additionally, it checks for maternal cell contamination in CVS or amniotic fluid samples to ensure the accuracy of prenatal genetic testing results.
- Test Code
- 1433
- ICD Code
- D56.1
- Price
- ₹21,000
- Sample Type
- Whole blood (Maternal) and Amniotic fluid or CVS
- Result Time
- Reports are available within 21 working days from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing, Fragment Analysis
Sample Collection
Duly filled Prenatal Genetic testing consent form (Form 18) and Genomics Clinical information requisition form (Form 20) are mandatory. Ensure all patient and clinical details are accurately provided.
Method: Venipuncture for blood; amniocentesis or chorionic villus sampling (CVS) for fluid
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist; amniotic fluid or CVS collected by a specialist in a clinical setting. Maintain sterile conditions.
Report Delivery
Ship samples refrigerated (2-8°C). Do not freeze. Transport within the stability window to ensure sample integrity.
Timeline: Reports are available within 21 working days from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
This assay is useful to check for uncommon mutations in the HBB gene associated with Thalassemia Beta. Additionally, it checks for maternal cell contamination in CVS or amniotic fluid samples to ensure the accuracy of prenatal genetic testing results.
How to Prepare
- Submit 3 mL (2 mL min.) whole blood (Maternal) in 1 Lavender top (EDTA) tube
- Submit 10 mL (5 mL min.) Amniotic fluid or CVS in a sterile screw capped container
- Ship refrigerated immediately after collection
- Do not freeze the samples
- Include completed consent and requisition forms
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early detection and management of Thalassemia Beta, especially in prenatal settings, to guide treatment decisions and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Use of incorrect sample tube (e.g., non-EDTA)
- Missing or incomplete consent and requisition forms
- Sample shipped frozen or after stability period
Understanding Your Results
No pathogenic mutations detected in HBB gene
Normal result; low risk for Thalassemia Beta, but clinical correlation is advised.
Pathogenic mutation detected
Indicates carrier status or affected state for Thalassemia Beta; further testing and genetic counseling recommended.
Maternal cell contamination present
Inconclusive prenatal result; repeat testing with a new sample may be required for accurate diagnosis.
Variant of uncertain significance (VUS) detected
Genetic counseling needed for risk assessment and potential follow-up testing.
If you experience symptoms of Thalassemia Beta, have a family history of the disorder, or if test results indicate abnormalities, consult a healthcare provider or genetic specialist immediately for personalized advice and management.
Limitations
- ⚠May not detect all rare or novel mutations in the HBB gene
- ⚠Not a standalone diagnostic tool; results should be correlated with clinical findings
- ⚠Requires genetic counseling for proper interpretation
- ⚠Test accuracy depends on sample quality and adherence to collection protocols
Risks & Considerations
- ●Minimal risk for blood draw, such as bruising or infection
- ●For amniocentesis or CVS: risks include infection, miscarriage, or leakage of amniotic fluid
- ●Emotional stress from test results; genetic counseling recommended
Interfering Factors
- ●Contaminated or hemolyzed blood samples
- ●Insufficient sample volume
- ●Incorrect sample handling or storage
- ●Presence of maternal cells in prenatal samples affecting accuracy
Compare With Similar Tests
| Test | Thalassemia Beta Complete Gene Analysis with MCC Test | Thalassemia Alpha Gene Analysis | Hemoglobin Electrophoresis | Complete Blood Count (CBC) | Prenatal Aneuploidy Screening |
|---|---|---|---|---|---|
| Comparison | Thalassemia Beta Complete Gene Analysis with MCC Test |
Frequently Asked Questions
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