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Medical information Clinical review pending

Genetic Testing

ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test

Genetic test using Next-Generation Sequencing (NGS) to analyze the ERCC1 gene for Cerebrooculofacioskeletal Syndrome Type 4, aiding in the diagnosis of related dysmorphology 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). Confirm with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is required for this test. 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 ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 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.

  • ✓Presence of facial dysmorphisms
  • ✓Ocular abnormalities
  • ✓Skeletal malformations
  • ✓Family history of Cerebrooculofacioskeletal Syndrome
  • ✓Suspicion of a genetic disorder affecting DNA repair
  • ✓Genetic counseling recommendation
02

In plain language

What this test helps you understand

This test aids in the diagnosis of Cerebrooculofacioskeletal Syndrome Type 4 by identifying mutations in the ERCC1 gene. It can help confirm a clinical suspicion based on characteristic symptoms and family history, guiding appropriate medical management and genetic counseling.
This specialized genetic test identifies anomalies associated with dysmorphology by analyzing the ERCC1 gene. It is designed to help understand the genetic basis of Cerebrooculofacioskeletal Syndrome Type 4, supporting healthcare providers in developing appropriate management and treatment plans. The test utilizes Next-Generation Sequencing (NGS) technology to examine the ERCC1 gene, which plays a key role in DNA repair. Detecting mutations or alterations in this gene can help confirm or rule out the presence of this specific syndrome. This test is particularly relevant for individuals showing symptoms like facial dysmorphisms, ocular abnormalities, or skeletal malformations. It may also be considered by those with a family history of genetic disorders or following genetic counseling. Understanding the genetic basis of a condition can provide clarity on health risks, inform treatment decisions, highlight potential hereditary implications for family members, and enable early intervention strategies.
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 →
PreparationNo special preparation is required for this test. Confirm with the laboratory before booking.
SampleBlood sample (EDTA tube). Confirm with the laboratory before booking.
MethodologyNext-Generation Sequencing (NGS) analysis of the ERCC1 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes specific regions of the ERCC1 gene. It may not detect all possible mutations, such as deep intronic changes or large deletions/duplications not detectable by NGS. A negative result does not completely rule out the condition. 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 rare genetic disorder characterized by abnormalities affecting the brain, eyes, face, and skeleton. It is caused by mutations in the ERCC1 gene.
Individuals with symptoms like facial dysmorphisms, eye problems, or skeletal issues, especially if there is a family history, may be recommended for this test.
A blood sample is typically required for this test. We offer convenient home sample collection services.
Turnaround time varies. Please contact the laboratory for the current estimated timeframe.
Yes, a genetic counselor can assist in interpreting the results and discussing their implications.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
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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