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PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic Test

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PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic Test

Short Name: PCDH19 Gene NGS Test

Also known as: PCDH19-Related Epilepsy, EIEE9, Early Infantile Epileptic Encephalopathy-9, PCDH19 Gene Sequencing

PCDH19 Gene Early infantile epileptic encephalopathy type 9 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 generally delivered within 3 to 4 weeks of sample receipt. This timeline allows for sequencing, bioinformatics analysis and clinical interpretation.. 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

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the PCDH19 gene and provide a molecular diagnosis of EIEE9. This can help clinicians plan treatment, monitor development and provide the family with accurate recurrence-risk information.

Test Code
4048
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are generally delivered within 3 to 4 weeks of sample receipt. This timeline allows for sequencing, bioinformatics analysis and clinical interpretation.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. It is important to complete a genetic counselling session and provide details of the child's clinical history, seizure semiology, EEG/MRI reports and family history before the sample is collected.

Method: Peripheral venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A small volume of peripheral blood is collected from the vein into an EDTA tube, or a few drops of blood are placed on an FTA card. If extracted DNA is submitted, it is checked for quantity and quality before NGS processing.

Step 3

Report Delivery

The puncture site is pressed with cotton and a bandage. There are no dietary or activity restrictions after the sample collection. The sample must be transported to the laboratory at the received conditions.

Timeline: Reports are generally delivered within 3 to 4 weeks of sample receipt. This timeline allows for sequencing, bioinformatics analysis and clinical interpretation.

Patient Instructions

1
Before the Test:Confirm the exact test with your physician and complete pre-test genetic counselling. Bring all previous medical records, including EEG, MRI, birth history and family history details.
2
During the Test:The testing process involves sample collection only. No pain or significant discomfort is expected beyond the minor prick during blood draw or applicable FTA card spot.
3
After the Test:You will receive the report online or by email/WhatsApp. You should schedule a post-test genetic counselling session to understand the implications of the result for the patient and family members.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the PCDH19 gene and provide a molecular diagnosis of EIEE9. This can help clinicians plan treatment, monitor development and provide the family with accurate recurrence-risk information.

How to Prepare

  • Ensure the sample tube/card is clearly labelled with the patient's full name, date of birth and collection date
  • Use an EDTA vacutainer for whole-blood collection and avoid clotting
  • If using an FTA card, apply one drop of blood into each designated circle and air-dry completely
  • If submitting extracted DNA, include a minimum of 1 μg of high-quality DNA (as per lab requirement)
  • Always send a copy of the clinical history, consent form and genetic counselling summary with the sample

Doctor's Notes

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

"Identifying a pathogenic PCDH19 variant can support early intervention, provide recurrence-risk counselling and avoid unnecessary investigations."

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 requirement
ContainerEDTA vacutainer / sterile DNA vial / FTA card
Collection MethodPeripheral venipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: stable for approximately 72 hours at 2-8°C
FTA card: stable at room temperature for several months when protected from humidity
Extracted DNA: long-term storage at -20°C or below
Sample Rejection Criteria:
  • Clotted, hemolysed or improperly labelled blood sample
  • Insufficient sample volume or insufficient DNA quantity/quality
  • FTA card not dried properly or contaminated
  • Sample received in unsuitable transport medium
  • Missing clinical history or genetic counselling documentation

Understanding Your Results

The report should be interpreted by a qualified clinical geneticist or specialist in the context of clinical findings, EEG/MRI data and family history. Genomic results are only one part of the diagnostic evaluation.
Pathogenic or likely pathogenic variant identified in PCDH19: Consistent with PCDH19-related early infantile epileptic encephalopathy type 9, provided the variant is inherited or de novo and correlates with phenotype; genetic counselling is recommended for the family.
Variant of uncertain significance (VUS): The clinical significance is not yet known. Further segregation testing in family members and additional analyses may be needed to clarify its role.
No pathogenic variant identified in PCDH19: A diagnosis of EIEE9 is not excluded. Further genetic testing, such as broader epilepsy gene panel or clinical exome sequencing, may be considered if clinical suspicion remains high.
⚠️ When to Consult a Doctor:

If an infant or child has recurrent seizures beginning in the first year of life, seizures triggered by fever, developmental delay/regression or unexplained epilepsy, a pediatric neurologist and a clinical geneticist should be consulted.

Limitations

  • ⚠NGS may not detect large deletions, duplications, deep intronic variants or chromosomal rearrangements depending on the assay design
  • ⚠A variant of uncertain significance (VUS) may be reported and require family segregation studies to clarify
  • ⚠A negative result does not exclude the diagnosis, as the causative variant may be in another gene or region not covered by this test
  • ⚠Variant interpretation requires clinical correlation and review by a qualified geneticist

Risks & Considerations

  • ●Minimal pain or bruising at the venipuncture site
  • ●Dizziness or lightheadedness during blood collection
  • ●Very small risk of infection, prevented by using sterile equipment

Interfering Factors

  • ●Low DNA quantity or poor DNA quality may affect test success
  • ●Sample contamination can cause false results
  • ●Mosaic variants below the detection threshold may not be identified
  • ●Recent allogeneic bone marrow transplantation may make results difficult to interpret

Frequently Asked Questions

What is the PCDH19 gene?
The PCDH19 gene provides instructions for making protocadherin-19, a protein involved in brain development and neuronal function. Pathogenic variants in this gene are associated with PCDH19-related epilepsy / EIEE9.
What is early infantile epileptic encephalopathy type 9 (EIEE9)?
EIEE9 is a rare genetic epilepsy syndrome characterised by seizures starting in infancy, often triggered by fever, along with developmental delay, cognitive impairment, behavioural issues and language delay.
Who should take this PCDH19 NGS genetic test?
This test is recommended for individuals with early-onset, fever-triggered seizures, global developmental delay or intellectual disability with epilepsy, especially when PCDH19-related epilepsy is suspected. Pre-test genetic counselling is advised.
Why is NGS preferred for PCDH19 gene testing?
NGS can sequence the entire coding region and splice junctions in a single sensitive assay, allowing detection of sequence variants at high depth and making it a practical approach for genetic diagnosis.
What is the cost of the PCDH19 gene NGS genetic test at DNA Labs India?
The special test price is INR 20,000. Home sample collection is available at no extra cost in many cities for online bookings.
What type of sample is required for this test?
The sample can be whole blood in an EDTA vacutainer, extracted DNA, or one drop of blood on an FTA card.
How long will the PCDH19 NGS test reports take?
Reports are usually available in 3 to 4 weeks after the sample reaches the laboratory.
Is fasting required for this genetic test?
No fasting is required. The test can be done at any time of the day.
Will I receive raw data files with the report?
Yes, DNA Labs India shares raw data files such as FASTQ and VCF along with the conclusive clinical report. This transparency allows for independent/second opinions.
Can EIEE9 be diagnosed without genetic testing?
A clinical diagnosis may be suspected based on seizure pattern, EEG and MRI findings, but NGS genetic testing provides molecular confirmation of the PCDH19 variant and is essential for accurate diagnosis and counselling.
Is the test covered by medical insurance?
Insurance coverage depends on the policy and provider. It is best to check with your insurance company before scheduling the test.
What are the limitations of this PCDH19 NGS test?
The test may not detect all types of large genomic rearrangements or deep intronic variants, and a negative result does not exclude EIEE9. Variants of uncertain significance may require additional family testing and clinical correlation.
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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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.

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