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PNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic Test

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PNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic Test

Short Name: PNKP Gene EIEE10 NGS Test

Also known as: PNKP-Related Early Infantile Epileptic Encephalopathy, EIEE10, PNKP Gene Epileptic Encephalopathy Test

PNKP Gene Early infantile epileptic encephalopathy type 10 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 Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent and express options, if available, may be offered at an additional cost.. Free home collection in 300+ cities across India.

NGS (Next Generation Sequencing)Pediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify disease-causing mutations in the PNKP gene that are responsible for Early Infantile Epileptic Encephalopathy Type 10. This test is indicated for children with unexplained early-onset seizures, developmental regression, microcephaly, and other clinical features suggestive of EIEE10. Genetic confirmation enables early intervention, appropriate antiepileptic therapy, palliative care planning, and accurate recurrence-risk assessment for families. It also helps exclude other similar genetic epileptic encephalopathies.

Test Code
4030
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent and express options, if available, may be offered at an additional cost.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A valid referral from a neurologist or pediatrician may be needed. Kindly carry the prescription, clinical history, and any prior investigation reports. For FTA card sample, follow the instructions provided in the kit.

Method: Venipuncture or Dried Blood Spot

Step 2

Laboratory Analysis

For blood collection, a standard venipuncture will be performed. For FTA card sample, a few drops of blood from a finger prick will be applied onto the card. The process is safe and minimal risk.

Step 3

Report Delivery

No restrictive instructions. You can resume normal activities. The sample will be transported to the lab for analysis. Please ensure that the sample is dispatched within the stipulated time frame.

Timeline: Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent and express options, if available, may be offered at an additional cost.

Patient Instructions

1
Before the Test:Please provide complete clinical history including age at seizure onset, seizure frequency, developmental milestones, family history of epilepsy/neurological disorders, and results of prior metabolic or imaging studies. You may be asked to meet a genetic counselor before the test.
2
During the Test:A blood sample will be drawn by a phlebotomist. If using FTA card, a finger-prick sample will be collected. The procedure takes less than 5 minutes.
3
After the Test:You will receive a detailed genetic report along with raw data files. A genetic counselor will explain the results, implications for treatment, recurrence risk, and reproductive options. Follow-up consultations with your neurologist are recommended.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing mutations in the PNKP gene that are responsible for Early Infantile Epileptic Encephalopathy Type 10. This test is indicated for children with unexplained early-onset seizures, developmental regression, microcephaly, and other clinical features suggestive of EIEE10. Genetic confirmation enables early intervention, appropriate antiepileptic therapy, palliative care planning, and accurate recurrence-risk assessment for families. It also helps exclude other similar genetic epileptic encephalopathies.

How to Prepare

  • No fasting required
  • Use EDTA vacutainer for blood sample
  • For FTA card, let the blood dry for at least 2 hours before packaging
  • Label the sample with patient's name and date of collection
  • Store at room temperature (18-25°C) if shipping within 24 hours; refrigerate for longer delays
  • Send with a signed requisition form and relevant clinical notes

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early infantile epileptic encephalopathy requires prompt genetic diagnosis to guide treatment and family counseling. This NGS-based PNKP gene test is a valuable tool for children presenting with refractory seizures and developmental delay."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood or 1-2 µg extracted DNA or one FTA blood spot
ContainerEDTA vacutainer / FTA card / DNA stabilizer tube
Collection MethodVenipuncture or Dried Blood Spot

Sample Stability

Whole blood (EDTA)
Extracted DNA
Dried blood spot (FTA card)
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted blood sample
  • Insufficient DNA quantity
  • Incorrect sample label
  • Sample received after prolonged delay without proper storage
  • Leaked or damaged packaging

Understanding Your Results

The PNKP gene NGS genetic test is interpreted using ACMG/AMP guidelines. The presence of a pathogenic variant in PNKP confirms the diagnosis of EIEE10 when clinical features match. A clinical geneticist or neurologist will provide a detailed interpretation, integrating the genetic result with the patient's phenotype and family history.
📊

Positive

A pathogenic or likely pathogenic variant in PNKP gene was identified. Diagnosis of EIEE10 is confirmed; genetic counseling and management planning recommended.

📊

Negative

No pathogenic variants were detected in the PNKP gene. EIEE10 due to PNKP mutation is unlikely; further testing for other epilepsy genes may be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unclear. Additional segregation analysis in family members may be required to clarify pathogenicity.

⚠️ When to Consult a Doctor:

You should consult a pediatric neurologist or clinical geneticist if your child has recurrent seizures, developmental delay, microcephaly, or other features suggestive of EIEE10. Early genetic diagnosis can guide treatment and help in planning future pregnancies.

Limitations

  • ⚠NGS technology may not detect large gene deletions, duplications, or repeat expansions
  • ⚠Variants in regulatory regions or deep intronic variants may not be detected
  • ⚠This test is limited to the PNKP gene and does not cover other epilepsy-related genes
  • ⚠Results are reported according to ACMG guidelines; variants of uncertain significance may be identified
  • ⚠A negative result does not rule out EIEE10 if the disease is due to a non-genetic cause or a gene not tested

Risks & Considerations

  • ●Bruising or discomfort at the blood draw site
  • ●Dizziness or fainting during venipuncture
  • ●Infection at the puncture site (rare)
  • ●Psychological stress from uncertain test results

Interfering Factors

  • ●Sample contamination or mixed samples
  • ●Degraded DNA due to improper storage
  • ●Incorrect sample labeling
  • ●Recent blood transfusion can cause false negative results
  • ●Low DNA yield

Compare With Similar Tests

TestPNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic Test
ComparisonPNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic Test

Frequently Asked Questions

What is PNKP gene related early infantile epileptic encephalopathy type 10?
PNKP gene early infantile epileptic encephalopathy type 10 (EIEE10) is a severe neurological disorder caused by mutations in the PNKP gene. It is characterized by early-onset seizures, developmental delay, intellectual disability, and microcephaly. PNKP is essential for DNA repair in neurons.
What are the symptoms of EIEE10?
Symptoms typically begin in infancy or early childhood. They include frequent and difficult-to-control seizures (epileptic encephalopathy), developmental delay, intellectual disability, abnormal muscle tone, feeding difficulties, and microcephaly.
How is EIEE10 diagnosed?
EIEE10 is diagnosed through genetic testing. A Next Generation Sequencing (NGS) test detects mutations in the PNKP gene. It is usually performed on a blood or saliva sample. Other tests like EEG, MRI, and metabolic tests may be used to rule out other causes.
What is the purpose of the PNKP gene NGS genetic test?
This test analyzes the entire PNKP gene to detect disease-causing variants that lead to EIEE10. It provides a precise genetic diagnosis, helps guide treatment decisions, and enables genetic counseling for the family.
What is the cost of the PNKP gene EIEE10 NGS test in India?
The cost of the PNKP gene EIEE10 NGS genetic test in India is around INR 20,000. DNA Labs India offers this test at a special discounted price of INR 20,000 with free home sample collection across many cities.
What sample is required for the test?
The test can be done on a blood sample, extracted DNA, or one drop of blood on an FTA card. Blood is collected in an EDTA vacutainer. The FTA card method allows easy transport at room temperature.
Do I need to fast before the test?
No fasting is required for the PNKP gene NGS genetic test. You can eat and drink normally before the sample collection.
How long does it take to get the results?
Results are generally available within 3 to 4 weeks. The time includes sequencing, bioinformatics analysis, variant interpretation, and preparation of the final clinical report.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection for online bookings. The service is available in many Indian cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and Pune, among others.
How accurate is NGS testing for PNKP mutations?
NGS is highly accurate for detecting single nucleotide variants, small insertions, deletions, and splice-site variants. However, very large deletions/duplications or structural rearrangements may require additional techniques like MLPA.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant in the PNKP gene was identified. This confirms the diagnosis of EIEE10. Genetic counseling and appropriate medical management should be initiated.
Will insurance cover the cost of the genetic test?
Most insurance plans in India do not cover genetic testing for rare diseases. However, some private insurance policies may offer partial coverage. It is advisable to check with your insurance provider and the laboratory regarding available schemes.
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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