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Medical information Clinical review pending

Genetic Testing

ESCO2 Gene SC Phocomelia Syndrome Genetic Test

Genetic test using Next Generation Sequencing (NGS) to analyze the ESCO2 gene for mutations associated with phocomelia syndrome, a condition involving limb malformations. Suitable for individuals with symptoms or a family history of related conditions.

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 an FTA card.
Results
Confirm with the laboratory before booking.
Preparation
No specific patient preparation is required for the blood draw. A genetic counseling session is recommended prior to testing to discuss family history and the implications of the test.
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 ESCO2 Gene SC Phocomelia 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.

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.

  • ✓Individuals presenting with symptoms of phocomelia syndrome (limb malformations).
  • ✓Family members of individuals diagnosed with an ESCO2-related disorder.
  • ✓Individuals with a family history of phocomelia or related conditions.
  • ✓Prenatal diagnosis in high-risk pregnancies.
  • ✓Confirmation of diagnosis based on clinical suspicion.
02

In plain language

What this test helps you understand

This test helps identify mutations in the ESCO2 gene associated with phocomelia syndrome and related developmental conditions. It aids in confirming a diagnosis, understanding the genetic basis of the condition, and providing information for genetic counseling and family planning.
The ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test is a specialized diagnostic tool designed to identify genetic mutations within the ESCO2 gene. This test utilizes advanced Next Generation Sequencing (NGS) technology to provide detailed analysis of the gene's sequence. Phocomelia syndrome is a rare condition characterized by significant limb malformations, and understanding the genetic basis is crucial for diagnosis and management. This test is particularly relevant for families with a history of dysmorphology or individuals presenting with symptoms suggestive of the condition. Early identification of genetic predispositions allows for informed medical decisions and family planning. Results are interpreted in conjunction with clinical findings and family history.
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 specific patient preparation is required for the blood draw. A genetic counseling session is recommended prior to testing to discuss family history and the implications of the test.
SampleBlood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS) is used to analyze the coding regions and splice junctions of the ESCO2 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes the ESCO2 gene specifically. It may not detect mutations in other genes that can cause similar conditions. The test may not identify all possible types of mutations within the ESCO2 gene. Results should be interpreted in the context of clinical findings and family history.
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

Phocomelia syndrome is a rare birth defect characterized by severe malformations of the limbs, often involving the absence or shortening of the arms and/or legs.
Individuals with symptoms of phocomelia, those with a family history of the condition, or families seeking genetic counseling for related developmental concerns should consider this test.
A sample can be collected as a blood draw, using previously extracted DNA, or via a single drop of blood on an FTA card.
Results will be provided to the ordering physician. Genetic counseling is recommended to help understand the results and their implications for the individual and family.
Genetic counseling is recommended before and after testing but is typically arranged separately. Please confirm availability and cost with the laboratory.
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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