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PRRT2 Gene Convulsions, familial infantile, with paroxysmal choreoathetosis NGS Genetic Test

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PRRT2 Gene Convulsions, familial infantile, with paroxysmal choreoathetosis NGS Genetic Test

Short Name: PRRT2 Gene Test

Also known as: Familial infantile convulsions with paroxysmal choreoathetosis, PRRT2-related disorder

PRRT2 Gene Convulsions, familial infantile, with paroxysmal choreoathetosis 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose PRRT2 gene mutations associated with familial infantile convulsions and paroxysmal choreoathetosis, enabling accurate diagnosis, treatment planning, and genetic counseling.

Test Code
1574
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with PRRT2 Gene Convulsions.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture; sample collected in an EDTA tube or on an FTA card.

Step 3

Report Delivery

Sample is transported to the lab under ambient room temperature; ensure proper labeling and documentation.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Sample processing and NGS analysis in the lab.

About This Test

Who Should Get This Test

To diagnose PRRT2 gene mutations associated with familial infantile convulsions and paroxysmal choreoathetosis, enabling accurate diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Provide clinical history and pedigree chart
  • No fasting required
  • Sample can be blood, extracted DNA, or one drop on FTA card
  • Maintain sample at room temperature during transport

Doctor's Notes

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

"Early genetic testing for PRRT2 mutations can guide treatment, management, and family counseling for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card samples stable for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing patient information or consent

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PRRT2 gene. A positive result confirms the diagnosis and can guide management.
📊

Pathogenic variant detected

Confirms PRRT2 Gene Convulsions; genetic counseling recommended.

📊

No pathogenic variant detected

Disorder unlikely due to PRRT2 mutations; consider other diagnoses.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms persist, worsen, or if genetic counseling is needed for family planning or management.

Limitations

  • ⚠Cannot detect all genetic variants; some may be of uncertain significance
  • ⚠Results may not predict disease severity or progression
  • ⚠Test does not cover other genes associated with similar disorders

Risks & Considerations

  • ●Minor bruising or pain at puncture site
  • ●Rare risk of infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Improper sample storage or transport

Compare With Similar Tests

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ComparisonPRRT2 Gene Convulsions, familial infantile, with paroxysmal choreoathetosis NGS Genetic Test

Frequently Asked Questions

What is PRRT2 Gene Convulsions?
It is a rare genetic disorder characterized by familial infantile convulsions and paroxysmal choreoathetosis, affecting the nervous system.
What are the symptoms of PRRT2 Gene Convulsions?
Symptoms include involuntary movements, seizures, muscle tone loss, balance issues, developmental delay, and speech difficulties.
How is PRRT2 Gene Convulsions diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS of the PRRT2 gene.
What is the NGS Genetic Test for PRRT2?
It is a next-generation sequencing test that analyzes the PRRT2 gene for mutations causing the disorder.
What is the cost of the PRRT2 Gene Test at DNA Labs India?
The test costs INR 20,000, including sample collection, transportation, testing, and reporting.
Is home collection available for the test?
Yes, free home sample collection is available for online bookings across major cities in India.
How long does it take to get the test results?
Results are typically available within 3-4 weeks after sample collection.
Is the test covered by health insurance?
No, the test is not covered by health insurance, but financing options are available.
What sample type is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Who should consider getting tested for PRRT2 Gene Convulsions?
Individuals with symptoms like infantile seizures, involuntary movements, or a family history of the disorder.
What does a positive test result mean?
A positive result confirms the presence of pathogenic PRRT2 mutations, aiding in diagnosis and management.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw; the test itself has no significant risks.
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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