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PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic Test

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PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic Test

Short Name: PRRT2 NGS Test

Also known as: PRRT2 Gene Mutation Test, Benign Familial Infantile Seizures Type 2 NGS Test, BFIS2 Genetic Test, PRRT2-related Infantile Seizures NGS Panel

PRRT2 Gene Seizures, benign familial infantile, type 2 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, children and adults🏠 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 this test is to detect disease-causing variants in the PRRT2 gene in individuals with clinical features suggestive of benign familial infantile seizures type 2, thereby confirming the diagnosis and supporting management and genetic counselling.

Test Code
4499
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Please provide a detailed clinical and family history. A genetic counselling session may be conducted to draw a pedigree chart of affected family members.

Method: Venipuncture / FTA card spot / DNA submission

Step 2

Laboratory Analysis

A small blood sample is collected. For FTA card collection, one drop of blood is applied to the card and allowed to air dry. No special preparation is needed.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be sent to the laboratory for NGS analysis. Reports are generally available in 3 to 4 weeks.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before testing. The doctor or genetic counsellor will explain the purpose, limitations, and possible outcomes of the test.
2
During the Test:The test involves collection of a blood sample or FTA card blood spot. The procedure is quick and minimally invasive.
3
After the Test:After sample collection, you may leave. The laboratory will process the NGS test and results will be shared with the physician, with raw data files available as per DNA Labs India reporting policy.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-causing variants in the PRRT2 gene in individuals with clinical features suggestive of benign familial infantile seizures type 2, thereby confirming the diagnosis and supporting management and genetic counselling.

How to Prepare

  • No fasting is required
  • Inform the lab about any recent blood transfusion or bone marrow transplant
  • Ensure the sample is labelled correctly with your name and date of birth
  • For FTA cards, allow the blood spot to dry completely before packing

Doctor's Notes

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

"Genetic testing for PRRT2 is useful when the clinical picture is suggestive of familial infantile seizures. For families planning future children, a confirmed genetic diagnosis helps in accurate recurrence-risk counselling and reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture / FTA card spot / DNA submission
Sample Rejection Criteria:
  • Clotted, haemolyzed, or insufficient blood sample
  • FTA card that is wet, damaged, or improperly stored
  • Mislabeled or unlabeled sample
  • Sample submitted without clinical history or signed consent

Understanding Your Results

Interpretation of PRRT2 NGS genetic test results is performed by clinical geneticists in the context of clinical history, family pedigree, and available variant databases.
📊

A pathogenic or likely pathogenic variant in PRRT2 has been identified. This supports the diagnosis of PRRT2-related benign familial infantile seizures type 2.

Result type: Positive

📊

No pathogenic or likely pathogenic variant in PRRT2 was detected. Other genetic and non-genetic causes should be considered.

Result type: Negative

📊

A genetic variant was found, but its disease-causing role is not yet confirmed. Additional family testing and clinical correlation may be needed.

Result type: Variant of uncertain significance

⚠️ When to Consult a Doctor:

If a child has recurrent seizures, if seizures continue despite management, or if the genetic test result is positive or uncertain, please consult a neurologist or clinical geneticist for appropriate management and genetic counselling.

Limitations

  • ⚠NGS may not detect all types of genetic variants such as large structural rearrangements or deep intronic variants
  • ⚠Variants of uncertain significance may require family segregation studies
  • ⚠Results should be interpreted by a clinical geneticist in the context of the full clinical picture
  • ⚠This test is intended for PRRT2-related disorders and does not rule out other genetic causes of epilepsy

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Rarely, an inconclusive result may require additional testing or family studies

Interfering Factors

  • ●Low quality or degraded DNA sample
  • ●Sample contamination during collection or transport
  • ●Large deletions or duplications involving PRRT2 which may not be detected by NGS alone
  • ●Incorrect or missing clinical and family history

Frequently Asked Questions

What is PRRT2 gene seizures?
PRRT2 gene seizures, also called benign familial infantile seizures type 2, are a genetic condition associated with mutations in the PRRT2 gene. It usually appears in infancy with brief, frequent seizures or involuntary jerking movements.
What causes PRRT2 gene seizures?
The condition is caused by pathogenic variants in the PRRT2 gene, which provides instructions for a protein involved in regulating nerve-cell activity. These variants disrupt the normal function of nerve cells and can lead to seizure episodes.
Who should undergo this NGS genetic test?
This test is recommended for infants or children with early-onset seizures, individuals with clinical features of benign familial infantile seizures type 2, and families with a history of PRRT2-related epilepsy or paroxysmal dyskinesia.
What is the cost of the PRRT2 NGS genetic test?
At DNA Labs India, the special discounted price for this NGS genetic test is Rs 20,000.
What type of sample is required?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
Do I need fasting before the test?
No, fasting is not required for this genetic test.
How long will the report take?
Reports are typically ready in 3 to 4 weeks after the sample is received by the laboratory.
What is NGS technology?
NGS, or next-generation sequencing, is a high-throughput DNA sequencing method that can analyse multiple genes simultaneously. It helps identify mutations in genes such as PRRT2 in a single test.
Will I receive raw data files with the report?
Yes, DNA Labs India provides Raw Data, FASTQ, and VCF files along with the conclusive clinical report for this test.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant in PRRT2 was identified, supporting the diagnosis of PRRT2-related benign familial infantile seizures type 2. Please discuss the result with your neurologist or clinical geneticist.
What does a variant of uncertain significance mean?
A variant of uncertain significance means the laboratory found a genetic change that is not yet known to cause disease. Additional family testing and clinical correlation may be needed to interpret the result.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
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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