Sickle Cell Mutation Screening [Prenatal] Test
Short Name: Sickle Cell Prenatal Screening
Also known as: Sickle Cell Trait Screening, Prenatal Sickle Cell Test, HBB Gene Mutation Screening
Sickle Cell Mutation Screening [Prenatal] Test test available at DNA Labs India for ₹6,000. Uses End Point PCR on Amniotic fluid / Chorionic villi / Cord blood samples. Results in 3-4 days. 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
The purpose of Sickle Cell Mutation Screening [Prenatal] is to identify the presence of sickle cell gene mutations in the fetus during pregnancy, enabling early risk assessment, informed decision-making, and preparation for potential medical interventions or management plans.
- Test Code
- 3194
- Price
- ₹6,000
- Sample Type
- Amniotic fluid / Chorionic villi / Cord blood
- Result Time
- 3-4 days
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
Consult with a healthcare provider for genetic counseling and procedure scheduling. Ensure informed consent is obtained for invasive prenatal procedures.
Method: Amniocentesis, Chorionic Villus Sampling (CVS), or Cordocentesis
Laboratory Analysis
Sample collection is performed by a trained medical professional using sterile techniques. The procedure varies based on sample type: amniocentesis, CVS, or cordocentesis.
Report Delivery
Monitor for any post-procedure symptoms such as cramping or bleeding. Follow-up with the healthcare provider as recommended.
Timeline: 3-4 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Sickle Cell Mutation Screening [Prenatal] is to identify the presence of sickle cell gene mutations in the fetus during pregnancy, enabling early risk assessment, informed decision-making, and preparation for potential medical interventions or management plans.
How to Prepare
- Schedule the procedure during the appropriate gestational age (typically first or second trimester)
- Ensure all samples are labeled correctly and transported in sterile containers
- Use cool packs for sample stability during transport if required
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Prenatal screening for sickle cell mutation is essential for at-risk couples, enabling early intervention, informed family planning, and improved neonatal outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Negative
No sickle cell gene mutation detected in the fetus. Low risk for sickle cell anemia, but carrier status may still be possible if parents are carriers.
Positive
Sickle cell gene mutation detected. The fetus is at risk for sickle cell anemia or trait. Further confirmatory testing and genetic counseling are recommended.
Consult a doctor or genetic counselor immediately if results are positive, or if there are concerns about family history, symptoms, or pregnancy management.
Limitations
- ⚠May not detect all rare or novel mutations in the HBB gene
- ⚠Requires confirmatory testing for definitive diagnosis
- ⚠Invasive procedures carry a small risk of complications such as miscarriage
Risks & Considerations
- ●Risk of miscarriage (approximately 0.1-0.3% for amniocentesis or CVS)
- ●Infection or bleeding at the procedure site
- ●Premature labor in rare cases
Interfering Factors
- ●Contaminated or improperly stored samples
- ●Maternal cell contamination in fetal samples
- ●Technical errors during PCR amplification
Compare With Similar Tests
| Test | Sickle Cell Mutation Screening [Prenatal] | Sickle Cell Solubility Test | Hemoglobin Electrophoresis |
|---|---|---|---|
| Comparison | Sickle Cell Mutation Screening [Prenatal] | A rapid screening test for sickle cell trait, but not specific for prenatal diagnosis or mutation detection. | Identifies abnormal hemoglobin types, useful for diagnosis but may require postnatal confirmation for prenatal cases. |
Frequently Asked Questions
What is Sickle Cell Mutation Screening [Prenatal]?
Why is this test important during pregnancy?
What samples are required for this test?
How is the test performed?
What are the risks associated with the test?
How long does it take to get results?
What do positive results mean?
Can this test detect all types of sickle cell mutations?
Is the test covered by insurance?
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Are there any alternatives to this test?
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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.
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