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SMN1 Gene Spinal muscular atrophy type 4 NGS Genetic Test

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SMN1 Gene Spinal muscular atrophy type 4 NGS Genetic Test

Short Name: SMN1 SMA Type 4 NGS

Also known as: SMA Type 4 Genetic Test, SMN1 Gene Sequencing, Spinal Muscular Atrophy Type 4 NGS Panel

SMN1 Gene Spinal muscular atrophy type 4 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 Reports are typically available in 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic variants in the SMN1 gene that cause Spinal Muscular Atrophy Type 4. It is used to confirm a clinical diagnosis, differentiate from other neuromuscular disorders, and provide information for genetic counseling and family planning.

Test Code
5787
CPT Code
81408
ICD Code
G12.9
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please inform the lab if you have had a blood transfusion or bone marrow transplant recently.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No specific aftercare is needed. You can resume normal activities immediately. The sample will be sent to the laboratory for analysis.

Timeline: Reports are typically available in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to discuss the purpose, risks, and implications of the test. Please bring any relevant medical records or family history.
2
During the Test:The test involves a simple blood draw or fingerstick. No special measures are needed.
3
After the Test:You will receive your report via email/portal within 3-4 weeks. A genetic counselor will be available to explain the results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the SMN1 gene that cause Spinal Muscular Atrophy Type 4. It is used to confirm a clinical diagnosis, differentiate from other neuromuscular disorders, and provide information for genetic counseling and family planning.

How to Prepare

  • Ensure the sample is collected in the provided EDTA tube or on the FTA card.
  • For FTA card, allow the blood spot to dry completely before sealing.
  • Label the sample with patient name, date, and time of collection.
  • Transport the sample at ambient temperature to the lab within 24 hours.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic confirmation of SMA Type 4 is crucial for appropriate management and genetic counseling. NGS provides comprehensive SMN1 analysis with high accuracy."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 24 hours at room temperature, 5 days at 2-8°C
FTA card: stable for months at room temperature
Extracted DNA: stable for years at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic variant in the SMN1 gene was detected. Results are interpreted by a clinical geneticist in the context of clinical symptoms and family history.
📊

Pathogenic variant detected

Confirms diagnosis of SMA Type 4. Genetic counseling is recommended for the patient and family.

📊

No pathogenic variant detected

SMA Type 4 is less likely, but other genetic causes of motor neuron disease should be considered. Further testing may be needed.

📊

Variant of uncertain significance (VUS)

The clinical significance is unclear. Additional family studies or functional assays may be required.

⚠️ When to Consult a Doctor:

If you or a family member experience progressive muscle weakness, tremors, or difficulty with motor skills, consult a neurologist. Early diagnosis and management can improve outcomes.

Limitations

  • ⚠NGS may not detect large deletions/duplications involving SMN1; additional MLPA or qPCR may be required
  • ⚠Variants in non-coding regions may not be fully covered
  • ⚠Results should be interpreted in the context of clinical findings and family history
  • ⚠Genetic counseling is recommended before and after testing

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient DNA quantity or quality
  • ●Recent blood transfusion (within 2 weeks) may dilute patient DNA
  • ●Bone marrow transplantation can affect results

Compare With Similar Tests

TestSMN1 Gene Spinal muscular atrophy type 4 NGS Genetic TestMLPA for SMN1Sanger Sequencing for SMN1Whole Exome Sequencing
ComparisonSMN1 Gene Spinal muscular atrophy type 4 NGS Genetic Test

Frequently Asked Questions

What is Spinal Muscular Atrophy Type 4?
SMA Type 4 is the mildest form of spinal muscular atrophy, with onset in adulthood (usually after 30 years). It causes progressive muscle weakness, mainly in the legs, and is caused by mutations in the SMN1 gene.
How is SMA Type 4 diagnosed?
Diagnosis involves clinical examination, electromyography (EMG), and genetic testing to detect SMN1 gene mutations. NGS genetic testing is a highly accurate method.
What is the cost of the SMN1 gene NGS test in India?
At DNA Labs India, the cost is INR 20,000, which includes free home sample collection and a comprehensive clinical report with raw data files.
What sample is required for this test?
A blood sample (2-3 ml in EDTA tube) or a single drop of blood on an FTA card is sufficient. Extracted DNA can also be submitted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks from sample receipt.
Will I receive raw data files?
Yes, DNA Labs India is the only lab that provides raw data (FASTQ, VCF) along with the clinical report for transparency.
Is home sample collection available?
Yes, we offer free home sample collection across major cities in India for online bookings.
What does the test detect?
The test detects pathogenic variants in the SMN1 gene, including point mutations and copy number variations, which cause SMA Type 4.
Can this test be used for carrier screening?
This test is primarily for diagnostic confirmation. Carrier screening may require a different approach; consult with a genetic counselor.
Are there any risks associated with the test?
The test is safe with minimal risks like bruising at the blood draw site. Genetic results may have psychological implications; counseling is recommended.
How accurate is NGS for SMA Type 4?
NGS is highly accurate for detecting SMN1 mutations, but large deletions may require additional methods like MLPA. Our lab uses a comprehensive approach.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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