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ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test

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ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test

Short Name: ASAH1 Gene SMA-PME NGS Test

Also known as: SMA-PME Genetic Test, ASAH1 Mutation Analysis

ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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🏠 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 mutations in the ASAH1 gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) for accurate diagnosis, management, and genetic counseling.

Test Code
4563
Price
₹20,000
Sample Type
Blood, 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

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture for blood or provided FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and draw a pedigree chart.
2
During the Test:Non-invasive blood draw or FTA card sample collection.
3
After the Test:Report delivery in 3-4 weeks with genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To detect mutations in the ASAH1 gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • No fasting required
  • Bring referral letter and clinical history if available
  • Ensure proper labeling of samples

Doctor's Notes

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

"This test is crucial for confirming SMA-PME diagnosis and guiding treatment plans for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeAs per requirement
Collection MethodVenipuncture for blood or provided 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 blood sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ASAH1 gene, aiding in the diagnosis of SMA-PME.
📊

Positive

Pathogenic variant detected in the ASAH1 gene, consistent with a diagnosis of SMA-PME. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected in the ASAH1 gene. Clinical correlation and further testing may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms such as muscle weakness, seizures, or developmental delays persist or worsen, consult a neurologist or geneticist for evaluation and management.

Limitations

  • ⚠May not detect all possible mutations in the ASAH1 gene
  • ⚠Requires genetic counseling for accurate interpretation and family planning

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results on patient and family

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection or processing

Compare With Similar Tests

TestASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test
ComparisonASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test

Frequently Asked Questions

What is the ASAH1 Gene SMA-PME NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ASAH1 gene, which causes Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME).
What are the symptoms of SMA-PME?
Symptoms include muscle weakness, tremors, seizures, intellectual disability, developmental delays, and speech difficulties.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to sequence the ASAH1 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required for this genetic test.
Who should take this test?
Individuals with symptoms of SMA-PME or a family history of the condition should consider this test.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the ASAH1 gene, confirming a diagnosis of SMA-PME.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to discuss implications and results.
Is the test covered by insurance?
Coverage varies; check with your insurance provider or DNA Labs India 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

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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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