Spinal Muscular Atrophy Screening [Prenatal] Test
Short Name: SMA Prenatal Screening
Also known as: SMA Prenatal Screening, SMN1 Gene Mutation Screening, Prenatal SMA Test
Spinal Muscular Atrophy Screening [Prenatal] Test test available at DNA Labs India for ₹11,250. Uses MLPA (Multiplex Ligation-dependent Probe Amplification) on Amniotic fluid / Chorionic villi / Cord blood samples. Results in Reports are typically available within 7-10 days after sample collection.. 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 Spinal Muscular Atrophy prenatal screening is to detect SMN1 gene mutations in the fetus early in pregnancy, enabling timely diagnosis, informed decision-making, and appropriate medical management to improve outcomes for the child and family.
- Test Code
- 3210
- Price
- ₹11,250
- Sample Type
- Amniotic fluid / Chorionic villi / Cord blood
- Result Time
- Reports are typically available within 7-10 days after sample collection.
- Fasting Required
- No
- Method
- MLPA (Multiplex Ligation-dependent Probe Amplification)
Sample Collection
Consult with a healthcare provider for genetic counseling and procedure explanation. Ensure proper consent is obtained. Avoid certain medications if advised.
Method: Chorionic Villus Sampling (CVS) or Amniocentesis
Laboratory Analysis
Performed by a trained specialist in a clinical setting. CVS involves sampling placental tissue, while amniocentesis involves sampling amniotic fluid. Local anesthesia may be used.
Report Delivery
Monitor for any signs of complications such as cramping, bleeding, or infection. Rest as advised. Follow up with healthcare provider for results and next steps.
Timeline: Reports are typically available within 7-10 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Spinal Muscular Atrophy prenatal screening is to detect SMN1 gene mutations in the fetus early in pregnancy, enabling timely diagnosis, informed decision-making, and appropriate medical management to improve outcomes for the child and family.
How to Prepare
- Obtain informed consent from the patient
- Use sterile equipment and containers
- Label samples accurately with patient details
- Transport samples at appropriate temperature to the lab
- Follow aseptic techniques to prevent contamination
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Prenatal screening for Spinal Muscular Atrophy is crucial for early intervention, family planning, and ensuring the best possible outcomes for the fetus and family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Unlabeled or mislabeled samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Normal
No pathogenic SMN1 gene mutation detected. Low risk of SMA, but carrier status may still be possible.
Abnormal
SMN1 gene mutation detected. High risk of SMA in the fetus. Further diagnostic testing and genetic counseling recommended.
Inconclusive
Results are ambiguous or technical issues occurred. Repeat testing or alternative methods may be needed.
Consult a doctor or genetic counselor if results are positive, inconclusive, or if there are concerns about the procedure or implications for pregnancy management.
Limitations
- ⚠May not detect all rare SMA variants or point mutations
- ⚠False negatives possible due to technical limitations
- ⚠Does not assess severity or type of SMA definitively
- ⚠Requires confirmation with additional testing if results are ambiguous
Risks & Considerations
- ●Slight risk of miscarriage (approximately 0.1-0.3%)
- ●Infection at the collection site
- ●Bleeding or cramping
- ●Premature labor in rare cases
- ●Failure to obtain adequate sample
Interfering Factors
- ●Contaminated or improperly collected sample
- ●Insufficient sample volume
- ●Maternal cell contamination in fetal samples
- ●Technical errors in DNA extraction or analysis
Frequently Asked Questions
What is Spinal Muscular Atrophy (SMA)?
Why is prenatal screening for SMA important?
How is the prenatal SMA screening test performed?
What is the cost of SMA prenatal screening at DNA Labs India?
Is the test safe for the mother and fetus?
How long does it take to get the results?
What do the results mean?
Can this test detect all types of SMA?
Do I need a doctor's prescription for this test?
Is home sample collection available?
What should I do if the results are abnormal?
Are there any alternatives to CVS or amniocentesis?
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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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