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Medical information Clinical review pending

Genetic Testing

PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test

Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PNKP gene, associated with early infantile epileptic encephalopathy. Helps understand the genetic cause of neurological symptoms.

General information only: This page is not a diagnosis or personal medical advice. A qualified clinician should decide whether testing is appropriate and interpret results in context.

Review status: No completed medical review is recorded for this page.

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Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Results
Confirm with the laboratory before booking.
Preparation
A clinical history of the patient is required. Genetic counseling is recommended prior to testing to discuss the implications and create a family pedigree chart. Confirm with the laboratory before booking.
Test priceKSh 40,000

Payment: M-Pesa and card options can be confirmed during booking.

Insurance & government schemes

Is this test covered for you?

We help you verify whether the PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test test can be claimed against your insurer, employer scheme or a Kenyan government health scheme — before you book. Coverage depends on your plan, clinical indication and your provider's rules; final approval always rests with them.

Talk to a claims advisor

Providers & schemes we can help you check

Government & public schemes

SHIF — Social Health Insurance Fund Linda Mama EduAfya NHIF (legacy cards)

Eligibility and benefits follow the current rules of the Social Health Authority (SHA) and applicable government programmes.

Private insurers & employer schemes

Jubilee Health AAR APA Britam CIC Madison Resolution Pioneer Minet Old Mutual GA Life Heritage + other licensed insurers

Names shown for identification only — listing does not imply partnership or guarantee of coverage.

Have these ready when we check

  • Insurer or scheme name & policy / member number
  • A clinician's request / prescription for the test
  • Pre-authorisation letter, if your plan requires one

Free coverage check

Ask us to verify your cover

Send your details and our claims team confirms what documents you need and whether pre-authorisation applies — usually the same working day.

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Used only to process your coverage check — see our Privacy Policy. Verification support is free and does not guarantee your provider will pay.

01

Start with fit

Is this the right test for you?

The best test starts with a clear clinical question. These are common reasons a clinician or family may consider this test.

  • ✓Infants or children with symptoms of severe epilepsy.
  • ✓Individuals with developmental delays and seizure activity.
  • ✓Patients with a family history of early infantile epileptic encephalopathy or related neurological disorders.
  • ✓Cases where a genetic cause for neurological symptoms is suspected.
02

In plain language

What this test helps you understand

This test helps identify specific genetic mutations in the PNKP gene associated with early infantile epileptic encephalopathy. This information can aid in confirming a diagnosis, understanding the underlying cause of neurological symptoms, guiding treatment decisions, and facilitating genetic counseling for families.
The PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test is an advanced diagnostic tool used to investigate the genetic basis of certain neurological disorders. This test utilizes Next Generation Sequencing (NGS) technology to analyze the PNKP gene. Mutations in this gene are linked to early infantile epileptic encephalopathy, a severe condition characterized by seizures and developmental delays starting in infancy.

This test specifically looks for changes or mutations within the PNKP gene. Identifying such mutations can provide crucial information for diagnosis and management. Understanding the genetic cause can help healthcare providers tailor treatment strategies and offer appropriate support to patients and their families.

This test is particularly relevant for infants and children presenting with symptoms suggestive of early infantile epileptic encephalopathy. It can also be considered for individuals with a family history of similar neurological conditions or developmental delays accompanied by seizures.
03

Medical review status

Clinical review pending

A completed medical review is not recorded for this page. No clinician has endorsed the information shown here. Please discuss testing decisions with a qualified healthcare professional.

Meet the DNA Labs Kenya medical team →
04

A simple process

What happens next?

You do not have to navigate the test alone. We help you move from question to next step.

1

Speak with us

We check the test and answer your questions before collection.

2

Give your sample

Choose home collection or a coordinated hub visit in Kenya. We explain whether this test uses a cheek swab or blood draw.

3

Understand your report

A counselor helps you understand the result and the next steps.

05

Choose your collection

Home collection or a lab visit

We will explain the sample, preparation, and next steps before anything is collected.

Home collection

Choose a coordinated visit at home or another convenient location. Our team confirms the appointment and sample requirements in advance.

Lab or hub visit

Prefer to visit a coordinated location? We can guide you to the right hub and explain what to expect when you arrive.

Ask about locations →
PreparationA clinical history of the patient is required. Genetic counseling is recommended prior to testing to discuss the implications and create a family pedigree chart. Confirm with the laboratory before booking.
SampleBlood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
MethodologyNext Generation Sequencing (NGS) of the PNKP gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes only the PNKP gene. It may not detect mutations in other genes that can cause similar symptoms. A negative result does not completely rule out a genetic cause. Confirm with the laboratory before booking.
06

Read your report

What common result terms mean

PositiveA finding was identified. Your clinician or counselor will explain what it means for your care.
NegativeThe specific finding tested for was not identified. It does not rule out every possible cause.
VUSA variant was found, but current evidence is not enough to classify it. Your counselor can explain follow-up.
07

Questions people ask

Frequently asked questions

This is a group of severe epilepsy syndromes that begin in infancy, often causing developmental delays and significant neurological challenges.
The PNKP gene provides instructions for making an enzyme involved in DNA repair. Mutations can disrupt this process, potentially leading to neurological disorders.
Infants or children with severe epilepsy, developmental delays, and seizures, especially if there is a family history of similar conditions, may be candidates for this test.
Results will be interpreted by a qualified healthcare professional. A positive result may confirm a diagnosis and guide management. A negative result will also be discussed with your doctor.
Genetic counseling is highly recommended before and after testing to understand the test's implications, interpret results, and discuss family risks.
A sample can be collected as a blood draw, extracted DNA, or a single drop of blood on a special card (FTA Card).
08

Collaboration

Open for partnership with hospitals, clinics, doctors & researchers

Whether you are referring patients, building a research programme or supporting students, we work as an extension of your team — with responsive communication and clear scientific standards.

Hospitals & clinics

Referral pathways, coordinated sample logistics and shared reporting that fits your clinical workflow.

Doctors & specialists

LOINC-coded reports, ACMG-based variant classification and a direct scientific line for complex cases.

Research institutions

Sanger sequencing, NGS panels and custom assays — with project design support, batch pricing and agreed turnaround commitments.

Students & academic projects

Discounted laboratory services for college, master's and PhD research projects — including proposal guidance and cost-effective batch testing.

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09

Trust & transparency

Sources, standards & how this page is maintained

Standards & references

  • ACMG/AMP technical standards for sequence variant interpretation
  • ClinGen curation and gene–disease validity frameworks where applicable
  • LOINC-coded reporting for interoperable results
  • ISO 9001:2015 quality management; ISO 15189 accreditation in progress

Page provenance

  • Last updated: September 27, 2026
  • Medical review: not yet completed
  • Written for patients & clinicians in Kenya; reviewed periodically against current guidance

Medical disclaimer: this page is general information, not a diagnosis or personal medical advice. Testing decisions and result interpretation should be made with a qualified healthcare professional.

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