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GOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic Test

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GOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic Test

Short Name: GOSR2 PME Type 6 NGS Test

Also known as: PME Type 6, GOSR2-related epilepsy, Progressive myoclonus epilepsy 6

GOSR2 Gene Progressive myoclonus epilepsy type 6 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.

Genetic TestAll 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 diagnose Progressive Myoclonus Epilepsy Type 6 by identifying mutations in the GOSR2 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
1792
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 recommended to discuss test implications and family history.

Method: Blood draw or DNA extraction

Step 2

Laboratory Analysis

Blood sample drawn by trained phlebotomist; alternative with FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; report generated in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to draw pedigree chart and discuss test benefits and limitations.
2
During the Test:Blood sample collection and NGS analysis in accredited laboratory.
3
After the Test:Report delivery with interpretation; follow-up consultation with specialist recommended.

About This Test

Who Should Get This Test

To diagnose Progressive Myoclonus Epilepsy Type 6 by identifying mutations in the GOSR2 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Collect blood in EDTA tube or use FTA card
  • Label sample with patient details
  • Store at ambient room temperature
  • Avoid hemolysis

Doctor's Notes

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

"This NGS test is essential for confirming PME Type 6 diagnosis, enabling targeted management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodBlood draw or DNA extraction

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GOSR2 gene. A positive result confirms PME Type 6 diagnosis.
📊

Pathogenic variant detected

Confirms PME Type 6; consult neurologist for management

📊

No pathogenic variant

PME Type 6 unlikely; consider other genetic or clinical causes

📊

Variant of uncertain significance

Further testing or family studies recommended

⚠️ When to Consult a Doctor:

If experiencing progressive myoclonus, seizures, ataxia, or other neurological symptoms, especially with family history of PME.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Cannot predict disease severity or onset precisely

Risks & Considerations

  • ●Potential psychological impact of results
  • ●Risk of incidental findings
  • ●No physical risks beyond blood draw

Interfering Factors

  • ●Hemolyzed blood samples
  • ●Contaminated DNA
  • ●Improper sample storage

Compare With Similar Tests

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ComparisonGOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic Test

Frequently Asked Questions

What is the GOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic Test?
This test uses Next-Generation Sequencing to analyze the GOSR2 gene for mutations causing PME Type 6, a rare neurological disorder.
Who should consider taking this test?
Individuals with symptoms like progressive myoclonus, seizures, ataxia, or a family history of PME, especially in childhood or adolescence.
What are the symptoms of PME Type 6?
Symptoms include muscle jerks, seizures, uncoordinated movements, speech difficulties, cognitive decline, vision problems, and sleep disturbances.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to detect mutations in the GOSR2 gene and related genes.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
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 for online bookings in numerous cities across India.
What does a positive result mean?
A positive result confirms a diagnosis of PME Type 6, helping guide treatment and management strategies.
Can this test detect other types of PME?
Yes, NGS analysis may identify mutations in other genes associated with PME, providing comprehensive diagnostic information.
Is genetic counseling recommended before testing?
Yes, a genetic counseling session is advised to draw a family pedigree chart and discuss the implications of test results.
What are the risks of the test?
Risks include potential psychological impact from results and minimal physical risks from blood draw, such as bruising.
How accurate is the test?
NGS testing is highly accurate for detecting genetic variants, but accuracy depends on sample quality and laboratory protocols.
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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