SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test
Short Name: SMN1 SMA1 NGS
Also known as: SMA Type 1 Genetic Test, SMN1 Gene Deletion/Sequencing Test, Spinal Muscular Atrophy SMN1 NGS Test
SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect disease-causing variants in the SMN1 gene to support diagnosis of Spinal Muscular Atrophy Type 1, aid early therapeutic decisions and provide information for genetic counselling and family risk assessment.
- Test Code
- 4547
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counselling session is required to draw a family pedigree and discuss the purpose, benefits, limitations and possible outcomes of the test. Please bring any previous medical records, muscle biopsy or EMG reports. No fasting is required.
Method: Blood draw / FTA blood spot / DNA sample submission
Laboratory Analysis
Blood will be collected by a trained phlebotomist. If using FTA card, one drop of blood is applied to the card and allowed to dry. If extracted DNA is provided, it is verified for quality before NGS.
Report Delivery
No restrictions. You may resume normal diet and activities. The laboratory will send the report after 3 to 4 weeks.
Timeline: 3 to 4 weeks after sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To detect disease-causing variants in the SMN1 gene to support diagnosis of Spinal Muscular Atrophy Type 1, aid early therapeutic decisions and provide information for genetic counselling and family risk assessment.
How to Prepare
- No fasting required
- Complete pre-test genetic counselling session
- Use EDTA tube for blood or FTA card for blood spot
- Label the sample with patient name, date of birth and collection date
- Keep FTA card dry and protected from moisture
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"In infants with hypotonia and feeding difficulties, an SMN1 NGS test should be considered early. Combining clinical evaluation, NGS results and pre-test genetic counselling gives the most reliable basis for treatment and family discussions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood unsuitable for extraction
- Unlabeled or mislabeled sample
- Insufficient DNA quality or quantity after extraction
- FTA card wet, contaminated or improperly dried
- Incomplete clinical or counselling details
Understanding Your Results
No pathogenic/likely pathogenic variant identified
Does not support SMN1-related SMA Type 1; consider clinical re-evaluation and additional genetic tests if suspicion remains.
Homozygous deletion of SMN1 exons 7 and/or 8
Molecularly confirms SMA Type 1 in a symptomatic infant.
Two pathogenic variants (biallelic) detected
Consistent with SMA; genotype-phenotype correlation depends on SMN2 copy number and clinical findings.
Single pathogenic variant detected
Suggests carrier state; the second variant may be a non-coding or structural alteration missed by this test, so follow-up with dosage analysis is recommended.
Variant of uncertain significance detected
Insufficient evidence to diagnose; family studies and further testing are recommended.
If your child has floppiness, poor feeding, weak cry, or breathing difficulty in the first months of life, see a pediatrician or pediatric neurologist promptly. If genetic testing is planned, ask for a genetic counselling session before and after the test.
Limitations
- ⚠NGS may not reliably detect all SMN1 copy-number changes or homozygous deletions in every analytical workflow; dedicated dosage testing may be required.
- ⚠Deep intronic, regulatory or large structural variants may not be covered by this test.
- ⚠A variant of uncertain significance does not confirm or exclude SMA.
- ⚠A negative result does not completely exclude SMA if clinical suspicion remains high; clinical re-evaluation may be needed.
Risks & Considerations
- ●Mild pain or bruising at the blood collection site
- ●Emotional or psychological impact of genetic results
- ●Need for genetic counselling to fully understand the implications
Interfering Factors
- ●Recent allogeneic blood transfusion may cause donor DNA contamination
- ●Bone marrow or stem cell transplant from another person
- ●Very low DNA concentration or degraded DNA
- ●High homology between SMN1 and SMN2 pseudogene can interfere with interpretation
- ●Maternal cell contamination in cord or neonatal blood samples
Compare With Similar Tests
| Test | SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test | High-resolution sequence analysis of SMN1 coding regions and splice sites; may include copy-number assessment depending on bioinformatics analysis. | Quantifies SMN1 and SMN2 copy number changes. |
Frequently Asked Questions
What is Spinal Muscular Atrophy Type 1?
What is the role of the SMN1 gene?
Which sample is required for this SMN1 NGS test?
Do I need to fast for this test?
What is the cost of the SMN1 Gene SMA Type 1 NGS Genetic Test?
How long will the reports take?
Can this test confirm a diagnosis of SMA Type 1?
Does this test screen for SMA carriers?
What is NGS technology?
Why does DNA Labs India provide raw data files?
Is home sample collection available for this test?
Is genetic counselling required before the test?
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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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