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SMN1 Gene Spinal muscular atrophy type 3 NGS Genetic Test

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SMN1 Gene Spinal muscular atrophy type 3 NGS Genetic Test

Short Name: SMA Type 3 NGS Test

Also known as: Kugelberg-Welander disease, SMA Type 3

SMN1 Gene Spinal muscular atrophy type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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)All ages, typically childhood onset🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the SMN1 gene for the diagnosis of Spinal Muscular Atrophy Type 3, aiding in clinical management and genetic counseling.

Test Code
4551
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
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a pedigree chart of family history.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card; minimal discomfort.

Step 3

Report Delivery

Sample transported to laboratory under ambient conditions for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to assess risk, discuss benefits and limitations, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, interpretation by geneticist, and follow-up consultation.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the SMN1 gene for the diagnosis of Spinal Muscular Atrophy Type 3, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification and labeling of sample
  • Use sterile collection tubes or FTA cards
  • Maintain sample at room temperature during transport

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing with NGS is essential for accurate diagnosis of SMA type 3, enabling early intervention and family planning counseling."

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 samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SMN1 gene, confirming diagnosis of SMA type 3.
📊

No pathogenic variants detected

Negative for SMA type 3; clinical correlation advised if symptoms persist.

📊

Pathogenic variants detected

Positive for SMA type 3; genetic counseling and management planning recommended.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If experiencing symptoms of muscle weakness, difficulty walking, or have a family history of SMA or genetic disorders, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all rare mutations or variants of uncertain significance
  • ⚠Results require correlation with clinical symptoms and family history

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Very low risk of infection

Frequently Asked Questions

What is Spinal Muscular Atrophy type 3?
SMA type 3, or Kugelberg-Welander disease, is a genetic disorder causing progressive muscle weakness due to mutations in the SMN1 gene, typically onset in childhood.
What are the common symptoms of SMA type 3?
Symptoms include muscle weakness in legs, difficulty walking or running, tremors, impaired fine motor skills, and trouble standing from seated positions.
How is SMA type 3 diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as NGS to detect SMN1 gene mutations.
What is the cost of the SMN1 Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, including home collection and genetic counseling.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
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 within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What does a positive result mean?
A positive result indicates pathogenic mutations in the SMN1 gene, confirming SMA type 3 diagnosis, requiring further management.
Can this test be used for carrier screening?
This test is primarily for diagnosis; carrier screening may require specific tests like SMA carrier screening.
What are the risks of the test?
Risks are minimal, such as minor bruising from blood draw; genetic counseling is provided to discuss implications.
How do I prepare for genetic counseling?
Prepare by gathering family medical history and discussing symptoms with the geneticist to draw a pedigree chart.
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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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.

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