Skip to main content
DNA Labs India

SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic Test

Short Name: SMA Type 2 NGS Test

Also known as: SMN1 Mutation Test, SMA Type 2 Genetic Test, Spinal Muscular Atrophy Type 2 DNA Test

SMN1 Gene Spinal muscular atrophy type 2 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)Infants and Children🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose Spinal Muscular Atrophy Type 2 by detecting mutations in the SMN1 gene using Next-Generation Sequencing (NGS) technology, aiding in early diagnosis, treatment planning, and genetic counseling.

Test Code
4552
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card. Procedure is minimally invasive.
3
After the Test:Resume normal activities. Monitor puncture site for any issues.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinal Muscular Atrophy Type 2 by detecting mutations in the SMN1 gene using Next-Generation Sequencing (NGS) technology, aiding in early diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for SMA Type 2 is crucial for timely intervention, management, and family planning. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SMN1 gene. Positive results confirm SMA Type 2 diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of Spinal Muscular Atrophy Type 2. Consult a neurologist for management.

📊

No pathogenic variant detected

SMA Type 2 unlikely, but clinical correlation is needed. Consider other genetic tests if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be required. Genetic counseling recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as muscle weakness, delayed milestones, or breathing difficulties are present, or if family history of SMA exists. After testing, consult for result interpretation and management.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Rare allergic reaction to antiseptic

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is the SMN1 Gene Spinal Muscular Atrophy Type 2 NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the SMN1 gene, diagnosing Spinal Muscular Atrophy Type 2, a genetic disorder causing muscle weakness.
Who should get this test?
Individuals with symptoms like delayed motor milestones, muscle weakness, or a family history of SMA, especially children aged 6-18 months.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
How is the sample collected?
Sample is collected via blood draw or using an FTA card with one drop of blood, at home or a lab.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Positive results confirm SMA Type 2 diagnosis; negative results suggest no pathogenic variants, but clinical correlation is advised.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting genetic variants, but results should be interpreted by a geneticist.
Are there any risks involved?
Risks are minimal, similar to a standard blood draw, such as bruising or infection at the puncture site.
Can this test be done for adults?
While SMA Type 2 is typically diagnosed in children, the test can be performed on adults if symptoms or family history indicate.
What should I do after receiving the results?
Consult a neurologist or genetic counselor for interpretation, management options, and family planning advice.
Does DNA Labs India provide genetic counseling?
Yes, genetic counseling is included as part of the test package to help understand results and implications.
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.

Related Tests

MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test

₹16,000

Myotonic Dystrophy Comprehensive Profile Test

₹11,000

MYF6 Gene Centronuclear Myopathy Type 3 NGS Genetic Test

₹20,000

DRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis Test

₹7,500

KIF7 Gene Acrocallosal Syndrome NGS Genetic Test

₹20,000

APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic Test

₹20,000
For Hospitals & Clinics

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.