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CERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic Test

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CERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic Test

Short Name: CERS1 PME Type 8 NGS Test

Also known as: PME Type 8 Genetic Test, CERS1 Mutation Analysis

CERS1 Gene Progressive myoclonus epilepsy type 8 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.

NGS Genetic TestChildhood and Adolescence🏠 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 the CERS1 Gene PME Type 8 NGS Genetic Test is to diagnose Progressive Myoclonus Epilepsy type 8 by detecting mutations in the CERS1 gene. This test helps in confirming the clinical suspicion, differentiating from other epilepsy types, and providing information for genetic counseling and family planning.

Test Code
1800
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 special preparation required. Inform the lab about any medications or recent transfusions.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture. For FTA card, a drop of blood will be applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Avoid strenuous activity with the arm.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or neurologist to discuss the test and implications.
2
During the Test:Sample collection will be performed by a trained phlebotomist.
3
After the Test:Results will be reviewed by a geneticist and reported via online portal or email.

About This Test

Who Should Get This Test

The purpose of the CERS1 Gene PME Type 8 NGS Genetic Test is to diagnose Progressive Myoclonus Epilepsy type 8 by detecting mutations in the CERS1 gene. This test helps in confirming the clinical suspicion, differentiating from other epilepsy types, and providing information for genetic counseling and family planning.

How to Prepare

  • Ensure patient is relaxed
  • Use sterile equipment
  • Label sample correctly
  • Store at appropriate temperature

Doctor's Notes

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

"Genetic testing for PME type 8 can confirm diagnosis, guide treatment, and assist in family planning for hereditary conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: stable for 24 hours at room temperature
Extracted DNA: stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results are interpreted based on the detection of mutations in the CERS1 gene. A positive result indicates the presence of pathogenic variants associated with PME type 8.
📊

Positive

Pathogenic mutation detected, consistent with PME type 8 diagnosis.

📊

Negative

No pathogenic variants detected. Clinical correlation recommended.

📊

Variant of Uncertain Significance

Genetic variant found but significance unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If genetic test results are positive or if symptoms worsen, consult a neurologist or genetic counselor for management options.

Limitations

  • ⚠Not all genetic variants may be detected
  • ⚠Results may include variants of uncertain significance
  • ⚠Test does not cover other genes associated with similar conditions
  • ⚠Genetic testing cannot predict disease severity or progression

Risks & Considerations

  • ●Psychological impact of test results
  • ●Privacy and confidentiality concerns
  • ●Risk of false positives or negatives
  • ●Potential for genetic discrimination

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Previous blood transfusions
  • ●DNA degradation

Compare With Similar Tests

TestCERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic TestSCN1A Gene TestEPM2A Gene Test
ComparisonCERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic Test

Frequently Asked Questions

What is the CERS1 Gene PME Type 8 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CERS1 gene, which causes Progressive Myoclonus Epilepsy type 8.
Who should undergo this test?
Individuals with symptoms of myoclonus, seizures, ataxia, or cognitive impairment, or those with a family history of PME type 8.
What are the symptoms of PME Type 8?
Symptoms include sudden muscle jerks, seizures, lack of coordination, and cognitive problems, typically starting in childhood or adolescence.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the CERS1 gene for mutations.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is the test covered by insurance?
Genetic testing may not be covered by insurance. It is advisable to check with your provider.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of a mutation in the CERS1 gene, confirming a diagnosis of PME type 8.
Are there any risks associated with genetic testing?
Risks include psychological stress, privacy concerns, and potential for uncertain results.
How can I prepare for the test?
No special preparation is needed. Inform the lab about any medical history or medications.
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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