Medical information Clinical review pending

Genetic Testing

EVC2 Gene Ellisvan Creveld Syndrome Genetic Test

Genetic test using Next Generation Sequencing (NGS) to detect mutations in the EVC2 gene, associated with Ellis-van Creveld syndrome. Helps diagnose this condition affecting bone and tooth development.

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) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Results: Confirm with the laboratory before booking.
Preparation: No special preparation is typically required for a blood draw. Follow any specific instructions provided by the laboratory or your doctor.

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 EVC2 Gene Ellisvan Creveld Syndrome 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.

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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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+254

Insurer or scheme

Policy / member number (optional)

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

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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.

✓Individuals with suspected Ellis-van Creveld syndrome based on clinical features.
✓Children with unexplained skeletal abnormalities or short stature.
✓Families with a history of Ellis-van Creveld syndrome.
✓Individuals presenting with polydactyly, dental abnormalities, or congenital heart defects.
✓Prenatal diagnosis in high-risk pregnancies.

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Ellis-van Creveld syndrome by identifying mutations in the EVC2 gene. Accurate diagnosis allows for appropriate medical management, genetic counseling, and family planning.

The EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test is a specialized genetic analysis that uses Next Generation Sequencing (NGS) technology. This test focuses on identifying mutations within the EVC2 gene, which are known to cause Ellis-van Creveld syndrome. This syndrome is a rare genetic disorder primarily characterized by skeletal dysplasia, impacting the growth and development of bones and teeth. Early and accurate diagnosis through genetic testing is crucial for understanding the condition and guiding appropriate medical management and care for affected individuals.

This test specifically analyzes DNA to detect variations in the EVC2 gene. A healthcare provider can use the results to confirm or rule out a diagnosis of Ellis-van Creveld syndrome.

Individuals who might benefit from this test include children presenting with unexplained skeletal abnormalities, short stature, polydactyly (extra fingers or toes), dental issues, or congenital heart defects. It is also recommended for families with a known history of Ellis-van Creveld syndrome.

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.

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A simple process

What happens next?

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

Speak with us

We check the test and answer your questions before collection.

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.

Understand your report

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

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 typically required for a blood draw. Follow any specific instructions provided by the laboratory or your doctor.

SampleBlood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.

MethodologyNext Generation Sequencing (NGS) of the EVC2 gene.

PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.

This test analyzes the EVC2 gene specifically. It may not detect mutations in other genes that could cause similar symptoms. Results must be interpreted in the context of clinical findings and family history. Confirm with the laboratory before booking.

Read your report

What common result terms mean

TermPlain-language meaning

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.

Questions people ask

Frequently asked questions

Ellis-van Creveld syndrome is a rare genetic disorder characterized by skeletal dysplasia (abnormal bone growth), short stature, extra fingers or toes (polydactyly), dental abnormalities, and sometimes heart defects.

This test provides a definitive diagnosis by identifying mutations in the EVC2 gene. An accurate diagnosis helps in managing the condition, understanding potential complications, and provides information for genetic counseling.

Individuals showing symptoms like skeletal abnormalities, short stature, polydactyly, or dental issues, as well as families with a history of the syndrome, should consider this test.

A blood sample is typically collected, or you may provide previously extracted DNA. Please confirm the exact sample requirements with the laboratory.

Turnaround time varies. Please contact the laboratory for the current estimated timeframe.

Results will indicate whether specific mutations in the EVC2 gene were detected. A genetic counselor or your doctor can help interpret the results in the context of your health history.

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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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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