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PRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic Test

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PRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic Test

Short Name: PRICKLE2 NGS Test

Also known as: PME type 5 genetic test, PRICKLE2-related epilepsy NGS test, Progressive myoclonic epilepsy 5 mutation analysis

PRICKLE2 Gene Epilepsy, progressive myoclonic type 5 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 issued within 3 to 4 weeks after sample receipt. Raw data files may be provided with the report if requested.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 identify pathogenic variants in the PRICKLE2 gene using targeted NGS and to confirm the genetic diagnosis of progressive myoclonic epilepsy type 5.

Test Code
4089
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after sample receipt. Raw data files may be provided with the report if requested.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is needed. A doctor's referral and clinical history should be sent to the laboratory. Genetic counselling is recommended before testing to document family history and discuss possible outcomes.

Method: Venipuncture / FTA card blood spot / client-provided DNA

Step 2

Laboratory Analysis

A small blood sample is collected; if FTA card is used, a single drop of blood is placed on the card. The process is quick and simple.

Step 3

Report Delivery

You can resume your routine activities immediately. The laboratory will process the sample and share the report once analysis is complete.

Timeline: Reports are issued within 3 to 4 weeks after sample receipt. Raw data files may be provided with the report if requested.

Patient Instructions

1
Before the Test:No special preparation is needed. A doctor's referral and clinical history should be sent to the laboratory. Genetic counselling is recommended before testing.
2
During the Test:A small blood sample is collected; if FTA card is used, a single drop of blood is placed on the card. The process is quick and painless for most patients.
3
After the Test:You can resume your routine activities immediately. The laboratory will process the sample and share the report once analysis is complete.

About This Test

Who Should Get This Test

To identify pathogenic variants in the PRICKLE2 gene using targeted NGS and to confirm the genetic diagnosis of progressive myoclonic epilepsy type 5.

How to Prepare

  • Collect blood in an EDTA vacutainer.
  • For FTA card, apply one drop of blood directly onto the card.
  • Label the sample with patient name and unique ID.
  • Provide clinical history and family history with the sample.
  • Transport at ambient temperature; do not freeze whole blood.

Doctor's Notes

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

"This NGS test should be ordered only in the appropriate clinical context. A diagnosis of progressive myoclonic epilepsy is based on neurological examination, EEG and imaging; genetic testing adds confirmatory information and helps assess recurrence risk in the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer or FTA card or sterile tube containing extracted DNA
Collection MethodVenipuncture / FTA card blood spot / client-provided DNA

Sample Stability

EDTA blood: 48 to 72 hours at 2-8°C
FTA card: stable at room temperature for several weeks
Extracted DNA: stable for weeks at -20°C
Sample Rejection Criteria:
  • Improperly labeled or unlabelled sample
  • Clotted or hemolysed blood
  • Insufficient sample volume or DNA concentration
  • Sample received without clinical history or consent
  • Sample received in a non-EDTA tube if blood is required

Understanding Your Results

This test is intended to support a clinical diagnosis of PRICKLE2-related progressive myoclonic epilepsy type 5. Genetic results must be interpreted by a clinical geneticist along with neurological assessment, EEG/MRI findings, family history, and prior genetic counselling.
📊

Pathogenic or likely pathogenic variant detected

Consistent with PRICKLE2-related progressive myoclonic epilepsy type 5; confirm with family segregation if indicated.

Action: Genetic counselling and clinical management.

📊

No pathogenic variant detected

PRICKLE2 gene variants were not identified; does not exclude all inherited epilepsies.

Action: Consider broader epilepsy panel or additional evaluation.

📊

Variant of uncertain significance (VUS)

A variant was found, but its clinical significance is not yet clear.

Action: Further family studies and segregation analysis may be needed.

⚠️ When to Consult a Doctor:

If myoclonic jerks, seizures, gait problems, speech difficulties, or cognitive regression appear, please consult a neurologist. To discuss genetic testing and its implications, ask for a referral to a clinical geneticist.

Limitations

  • ⚠Targeted PRICKLE2 single-gene NGS test does not evaluate other epilepsy-related genes.
  • ⚠Large structural rearrangements and variants in non-coding regions may not be detected by standard targeted NGS.
  • ⚠A negative result does not eliminate a genetic or non-genetic cause.
  • ⚠Test results should be interpreted only in combination with clinical evaluation and genetic counselling.

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Small risk of bleeding or hematoma
  • ●No radiation exposure or contrast agent is used in this genetic test

Interfering Factors

  • ●Inadequate DNA quality or quantity
  • ●Sample hemolysis or improper storage
  • ●Variants in regions not covered by the NGS assay, such as deep intronic regions
  • ●Presence of a variant of uncertain significance requiring further family studies

Compare With Similar Tests

TestPRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic TestPRICKLE2 Targeted NGS TestComprehensive Epilepsy NGS Panel
ComparisonPRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic Test

Frequently Asked Questions

What is PRICKLE2 gene epilepsy?
PRICKLE2 gene epilepsy is a rare form of progressive myoclonic epilepsy known as progressive myoclonic epilepsy type 5. It is caused by pathogenic variants in the PRICKLE2 gene and may present with seizures, myoclonic jerks, coordination problems, cognitive impairment, and developmental delay.
What is progressive myoclonic epilepsy type 5?
Progressive myoclonic epilepsy type 5 is a rare genetic epilepsy subtype associated with PRICKLE2 gene changes. It is characterized by progressive myoclonus, seizures, and neurological deterioration.
What causes PRICKLE2 gene epilepsy?
PRICKLE2 gene epilepsy is caused by pathogenic variants in the PRICKLE2 gene. These genetic changes can affect neuronal development and function, leading to seizures and progressive neurological symptoms.
What are the symptoms of PRICKLE2-related epilepsy?
Symptoms may include seizures, muscle jerks or twitches, difficulty walking or coordination problems, speech difficulties, cognitive impairment, and developmental delay. Symptoms can vary from person to person.
How is PRICKLE2 gene epilepsy diagnosed?
The diagnosis is made by a neurologist or geneticist based on clinical examination, medical history, EEG, MRI, and genetic testing. The NGS genetic test for PRICKLE2 gene helps confirm the genetic cause.
Should I get genetic counselling before this test?
Yes. Genetic counselling is recommended before testing to draw a pedigree chart of family members, understand the implications of possible results, and make an informed decision.
What sample is needed for the PRICKLE2 NGS test?
The sample can be blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. Free home sample collection is available for online bookings.
How much does the PRICKLE2 NGS genetic test cost at DNA Labs India?
The test costs INR 20,000 at DNA Labs India. The price includes NGS analysis, clinical interpretation, and raw data files along with the clinical report.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long will my PRICKLE2 NGS test reports take?
Reports are generally available in 3 to 4 weeks after sample submission because NGS sequencing, data analysis, and variant interpretation take time.
What can a negative result tell me?
A negative result means no pathogenic or likely pathogenic variant was detected in the PRICKLE2 gene. It does not completely exclude a genetic cause, and the result should be interpreted with clinical findings.
Can a targeted PRICKLE2 test detect all epilepsy genes?
No. This is a single-gene NGS test for the PRICKLE2 gene only. It is not a comprehensive epilepsy panel. If other genetic epilepsies are suspected, your doctor may recommend a broader multi-gene test.
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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