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DNA Labs India

Spinal Muscular Atrophy Gene Panel Test

DNA Labs India | ISO 9001:2015 Certified

Spinal Muscular Atrophy Gene Panel Test

Short Name: SMA Gene Panel

Also known as: SMA Gene Test, SMN1 Gene Panel, Spinal Muscular Atrophy Genetic Test

Spinal Muscular Atrophy Gene Panel Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Amniotic fluid, Chorionic villi, Peripheral blood samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Genetic Panel🏠 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

The purpose of the Spinal Muscular Atrophy Gene Panel is to diagnose SMA by identifying mutations in the SMN1 gene and related genes. It helps in confirming the disease, determining its type and severity, guiding treatment strategies, and providing genetic counseling for families.

Test Code
3213
Price
₹20,000
Sample Type
Amniotic fluid, Chorionic villi, Peripheral blood
Result Time
4-6 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Spinal Muscular Atrophy Gene Panel can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Method: Blood draw or Saliva collection

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:Spinal Muscular Atrophy Gene Panel can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
2
During the Test:The test involves a simple blood draw or saliva collection, which takes about 15-30 minutes.
3
After the Test:After sample collection, it is sent to the lab for analysis. Results are available in 4-6 weeks.

About This Test

Who Should Get This Test

The purpose of the Spinal Muscular Atrophy Gene Panel is to diagnose SMA by identifying mutations in the SMN1 gene and related genes. It helps in confirming the disease, determining its type and severity, guiding treatment strategies, and providing genetic counseling for families.

How to Prepare

  • Use sterile containers for sample collection
  • Follow instructions for amniotic fluid or chorionic villi collection if applicable
  • Ensure proper labeling and transport

Doctor's Notes

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

"Early genetic testing for SMA is essential for timely intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid, Chorionic villi, Peripheral blood
ContainerSterile container, Sterile Normal Saline Container, EDTA Vacutainer
Collection MethodBlood draw or Saliva collection

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Saliva samples: Stable for 7 days at room temperature
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results of the Spinal Muscular Atrophy Gene Panel are interpreted based on the presence of pathogenic variants in the SMN1 gene and other analyzed genes.
Positive for SMN1 deletion: Confirms SMA diagnosis
Carrier status: One copy of SMN1 deleted, risk of passing to offspring
Negative: No pathogenic variants detected, but clinical correlation needed
⚠️ When to Consult a Doctor:

If you experience symptoms such as progressive muscle weakness, difficulty walking, or respiratory issues, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Results require clinical correlation
  • ⚠Not a substitute for comprehensive clinical evaluation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Spinal Muscular Atrophy (SMA)?
Spinal Muscular Atrophy is a genetic disorder that affects motor neurons, leading to muscle weakness and atrophy. It is caused by mutations in the SMN1 gene.
What is the Spinal Muscular Atrophy Gene Panel?
The Spinal Muscular Atrophy Gene Panel is a genetic test that analyzes the SMN1 gene and other associated genes to diagnose SMA with high accuracy using Next Generation Sequencing.
How is the test performed?
The test is performed on a blood sample, saliva sample, amniotic fluid, or chorionic villi. It involves DNA extraction and sequencing to detect gene mutations.
What is the cost of the Spinal Muscular Atrophy Gene Panel?
The cost of the test in India is INR 20,000, which includes sample collection, genetic analysis, and report delivery.
Is the test covered by insurance?
The test is not always covered by insurance. Patients may need to pay out of pocket, but some laboratories offer financial assistance or payment plans.
What are the symptoms of Spinal Muscular Atrophy?
Symptoms include muscle weakness, atrophy, difficulty breathing or swallowing, poor reflexes, floppy muscles, and difficulty with motor skills. Severity varies by type.
How is SMA diagnosed?
Diagnosis involves genetic testing like the SMA Gene Panel, along with clinical evaluation, electromyography, nerve conduction studies, and pulmonary function tests.
What are the types of SMA?
SMA is classified into four types: Type 1 (infantile-onset, severe), Type 2 (childhood-onset, moderate), Type 3 (juvenile-onset, mild to moderate), and Type 4 (adult-onset, mild).
Who should get tested for SMA?
Individuals with a family history of SMA, those showing symptoms like muscle weakness, or couples planning pregnancy with a known carrier status should consider testing.
How accurate is the gene panel test?
The Spinal Muscular Atrophy Gene Panel uses advanced NGS technology to detect SMN1 gene mutations with a high degree of accuracy, but results should be interpreted clinically.
What do the test results mean?
Results indicate the presence or absence of pathogenic variants in the SMN1 gene. Positive results confirm SMA, while negative results may require further evaluation.
Where can I get the test done?
The test is available at DNA Labs India with home sample collection across numerous cities in India. Book online or contact for details.
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.

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.

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