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PRICKLE1 Gene Progressive myoclonus epilepsy type 1A NGS Genetic Test

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PRICKLE1 Gene Progressive myoclonus epilepsy type 1A NGS Genetic Test

Short Name: PRICKLE1 NGS PME1A

Also known as: PRICKLE1 Gene Mutation Analysis, Progressive Myoclonus Epilepsy Type 1A Genetic Test, PRICKLE1 NGS Test, PME1A Gene Sequencing

PRICKLE1 Gene Progressive myoclonus epilepsy type 1A 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 The report is usually available within 3 to 4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren, Adolescents 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 identify pathogenic or likely pathogenic variants in the PRICKLE1 gene associated with progressive myoclonus epilepsy type 1A. It assists in confirming clinical diagnosis, enabling recurrence risk counselling, guiding surveillance, and supporting informed family planning decisions.

Test Code
4495
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report is usually available within 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry a doctor's referral if available. A pre-test genetic counselling session is recommended to document clinical history and draw a family pedigree.

Method: Venipuncture / FTA card blood spot / DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist or healthcare professional will collect blood by venipuncture. For FTA card samples, one drop of blood is placed on the designated card and allowed to dry.

Step 3

Report Delivery

For blood collection, apply gentle pressure at the venipuncture site. FTA card samples should be kept dry and sealed. The sample will be transported to the laboratory for NGS analysis.

Timeline: The report is usually available within 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counselling session is recommended to review family history, expectations, risks, benefits, and limitations of the test.
2
During the Test:The test involves the collection of a small venous blood sample, an FTA card blood spot, or submission of extracted DNA. The sample is sent to the genomics laboratory for DNA extraction, enrichment, and next-generation sequencing.
3
After the Test:After sample collection, you can resume normal activities. The laboratory will analyse the PRICKLE1 gene and provide a clinical report, including raw data, FASTQ and VCF files, within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRICKLE1 gene associated with progressive myoclonus epilepsy type 1A. It assists in confirming clinical diagnosis, enabling recurrence risk counselling, guiding surveillance, and supporting informed family planning decisions.

How to Prepare

  • No fasting is required for this test.
  • Use EDTA vacutainer for whole blood collection.
  • If using FTA card, apply one drop of blood and allow it to dry completely.
  • Label the sample with patient name, date of birth, and collection date.
  • Attach the completed test requisition form with clinical history.

Doctor's Notes

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

"Progressive myoclonus epilepsy can be difficult to distinguish from other epileptic syndromes. When myoclonus is accompanied by ataxia, cognitive decline, or a compatible family history, targeted PRICKLE1 genetic testing should be considered early to establish the diagnosis and guide counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL whole blood; one drop blood for FTA card; extracted DNA as per laboratory instruction
ContainerEDTA vacutainer / FTA card / sterile DNA collection tube
Collection MethodVenipuncture / FTA card blood spot / DNA submission

Sample Stability

EDTA whole blood: ideally reaches laboratory within 72 hours; store at 2-8°C.
FTA card: store in a dry, sealed pouch at ambient room temperature, protected from humidity and direct sunlight.
Extracted DNA: short-term storage at 2-8°C; long-term storage at -20°C, avoiding repeated freeze-thaw cycles.
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample volume
  • FTA card contaminated, wet, or not dried properly
  • Incorrect or missing sample label
  • Incomplete test requisition form or missing clinical information
  • Sample mix-up or suspected contamination

Understanding Your Results

Variants identified in the PRICKLE1 gene are classified according to standard ACMG/AMP guidelines. The result should always be interpreted in the context of clinical symptoms, neurological examination, EEG findings, neuroimaging, and family history.
📊

Pathogenic variant detected in PRICKLE1

Provides strong evidence supporting a diagnosis of PRICKLE1-related progressive myoclonus epilepsy type 1A when clinical features are consistent. Please review management with a neurologist and clinical geneticist.

📊

Likely pathogenic variant detected in PRICKLE1

Indicates a high likelihood of PRICKLE1-related PME1A. Additional family segregation testing may increase diagnostic certainty.

📊

Variant of uncertain significance (VUS) detected in PRICKLE1

The clinical significance of this variant is currently unknown. Further family studies, segregation analysis, and additional investigations may be needed before a definite diagnosis is made.

📊

No pathogenic variant detected in PRICKLE1

Reduces but does not completely exclude PRICKLE1-related PME1A. Other PME-associated genes or non-coding variants should be considered if clinical suspicion remains high.

⚠️ When to Consult a Doctor:

Please consult your treating neurologist and a clinical geneticist if the report shows a pathogenic or likely pathogenic variant, if a variant of uncertain significance is reported, or if symptoms persist despite a negative PRICKLE1 result.

Limitations

  • ⚠NGS-based gene testing may not detect all pathogenic changes, including large deletions, duplications, repeat expansions, or deep intronic variants.
  • ⚠A negative PRICKLE1 result does not exclude other genetic causes of progressive myoclonus epilepsy.
  • ⚠A variant of uncertain significance may require additional family segregation studies.
  • ⚠The test is not intended for the diagnosis of non-genetic causes of myoclonus or seizures.

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the venipuncture site
  • ●Dizziness or fainting during blood collection
  • ●Potential psychological distress after receiving a genetic result
  • ●Variant of uncertain significance may require additional testing

Interfering Factors

  • ●Inadequate quantity or quality of extracted DNA
  • ●Sample contamination by another person's DNA
  • ●Low-level mosaicism may be below the detection threshold
  • ●Heparinised blood can interfere with amplification reactions
  • ●Incomplete or incorrect clinical and family history

Compare With Similar Tests

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Frequently Asked Questions

What is the PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A NGS Genetic Test?
It is a next-generation sequencing test that analyses the PRICKLE1 gene to detect variants associated with progressive myoclonus epilepsy type 1A. It helps confirm the diagnosis in patients with myoclonus, seizures, coordination problems, and cognitive decline.
Who should consider this test?
People with unexplained myoclonus, generalised seizures, ataxia, muscle weakness, cognitive decline, or a family history of PRICKLE1-related progressive myoclonus epilepsy should consider this test. A neurologist or clinical geneticist may recommend it.
Do I need to fast before undergoing this test?
No, fasting is not required for this PRICKLE1 gene NGS genetic test.
What sample types are accepted for this test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the report?
The clinical report is generally provided within 3 to 4 weeks after the laboratory receives the sample.
What is the cost of the PRICKLE1 gene NGS genetic test?
The test costs Rs 20,000. Free home sample collection is available across India for online bookings.
Why is NGS technology used for this test?
NGS technology can efficiently sequence the PRICKLE1 gene and identify clinically significant variants with high sensitivity, helping to confirm the genetic cause of progressive myoclonus epilepsy type 1A.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant was detected in the PRICKLE1 gene. This supports a genetic diagnosis of progressive myoclonus epilepsy type 1A when clinical features are consistent.
What does a negative test result mean?
A negative result means no pathogenic variant was detected in the PRICKLE1 gene. However, it does not completely exclude PME, because other genes or non-coding variants may be responsible.
What is a variant of uncertain significance?
A variant of uncertain significance is a genetic change whose effect on health is not yet clear. Additional family testing and clinical correlation may be needed before it can be classified as pathogenic or benign.
Can this test be used for family screening?
Yes, but it is recommended to first test the affected family member to identify the familial variant. Predictive and reproductive testing should only be done after genetic counselling.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the PRICKLE1 gene NGS genetic test in many cities across India. Raw data, FASTQ and VCF files are also shared with the clinical report.
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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