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Medical information Clinical review pending

Genetic Testing

COL4A1 Gene Porencephaly Familial Genetic Test

Genetic test analyzing the COL4A1 gene to identify mutations associated with porencephaly and related conditions. Suitable for individuals with a family history of dysmorphology or 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, Extracted DNA, or One drop of blood on FTA Card.
Results
Confirm with the laboratory before booking.
Preparation
A genetic counseling session prior to testing is recommended to establish a family pedigree.
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 COL4A1 Gene Porencephaly Familial 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.

  • ✓Family history of porencephaly
  • ✓Presence of developmental delays
  • ✓Neurological symptoms of unknown origin
  • ✓Physical abnormalities suggestive of COL4A1-related disorders
  • ✓Family history of COL4A1 mutations
  • ✓Genetic counseling for families with affected members
02

In plain language

What this test helps you understand

Identifies mutations in the COL4A1 gene associated with porencephaly and related developmental disorders. Helps in diagnosis, genetic counseling, and understanding potential risks for family members.
The COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test uses Next Generation Sequencing (NGS) technology to examine the COL4A1 gene. This gene plays a vital role in brain development, and abnormalities can lead to conditions like porencephaly, which involves cystic cavities in the brain. Understanding the genetic basis of these conditions is important for diagnosis, management, and treatment planning. This test specifically looks for mutations within the COL4A1 gene. Identifying these mutations can help healthcare providers understand the genetic factors contributing to porencephaly in affected individuals. This test is recommended for individuals and families with a history of porencephaly or related symptoms, such as developmental delays, neurological issues, or physical abnormalities. It is also relevant for those with a known family history of COL4A1 mutations or unexplained neurological symptoms. Taking this test can provide clarity on genetic risks for family members, aid in family planning decisions, guide treatment strategies, and connect individuals with genetic counseling and support resources. Results will indicate the presence or absence of detectable mutations in the COL4A1 gene. Discussing the results with a healthcare provider or genetic counselor is essential for a complete understanding.
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 genetic counseling session prior to testing is recommended to establish a family pedigree.
SampleBlood sample, Extracted DNA, or One drop of blood on FTA Card.
MethodologyNext Generation Sequencing (NGS) analysis of the COL4A1 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the COL4A1 gene. It does not detect mutations in other genes that may cause similar conditions. A negative result does not completely rule out a genetic cause for the symptoms. 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

Porencephaly is a rare neurological disorder characterized by the presence of cysts or cavities within the brain's cerebral hemispheres.
Individuals with a personal or family history of porencephaly, developmental delays, neurological issues, or physical abnormalities potentially linked to COL4A1 gene mutations should consider this test.
A positive result indicates the presence of a mutation in the COL4A1 gene that may be contributing to the condition. Further discussion with a healthcare provider is needed.
A negative result means no mutations were detected in the COL4A1 gene within the scope of the test. It does not rule out other genetic causes.
A sample can be collected as blood, extracted DNA, or a single drop of blood on an FTA card.
Yes, a genetic counseling session before testing is recommended to understand the test's implications and create a family history.
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.

Explore partnerships
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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