Medical information Clinical review pending

Genetic Testing

UROS Gene Porphyria Congenital Erythropoietic Genetic Test

Genetic test for mutations in the UROS gene associated with Congenital Erythropoietic Porphyria (CEP), a rare metabolic disorder. Helps identify genetic risks and inform management.

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 (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Results: Confirm with the laboratory before booking.
Preparation: No special preparation is typically required for this blood test. However, confirm with the laboratory for any specific instructions.

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 UROS Gene Porphyria Congenital Erythropoietic 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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Mobile number *

+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 symptoms suggestive of Congenital Erythropoietic Porphyria (e.g., severe photosensitivity, red urine, anaemia).
✓Family history of CEP or other porphyrias.
✓Unexplained symptoms potentially related to metabolic disorders.
✓Confirmation of diagnosis in suspected cases.
✓Genetic counselling for individuals at risk.

In plain language

What this test helps you understand

This test helps identify genetic mutations in the UROS gene associated with Congenital Erythropoietic Porphyria (CEP). It aids in diagnosing CEP, understanding genetic risk, and guiding management strategies for individuals with symptoms or a family history of the condition.

The UROS Gene Porphyria Congenital Erythropoietic NGS Genetic DNA Test is a specialized genetic analysis designed to identify mutations within the UROS gene. This gene is linked to Congenital Erythropoietic Porphyria (CEP), a rare inherited metabolic disorder affecting heme production. This test utilizes Next-Generation Sequencing (NGS) technology for a detailed examination of the UROS gene. Understanding genetic predispositions to metabolic disorders is crucial for early diagnosis and effective management. This test is particularly relevant for individuals showing symptoms suggestive of porphyria or those with a known family history of the condition. Early detection can significantly improve health outcomes and quality of life. The test specifically looks for genetic changes in the UROS gene known to cause CEP. Identifying these mutations helps healthcare providers assess an individual's risk and guide appropriate care.

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 this blood test. However, confirm with the laboratory for any specific instructions.

SampleBlood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.

MethodologyNext-Generation Sequencing (NGS) of the UROS 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 UROS gene. It may not detect all possible mutations, such as deep intronic changes or large deletions/duplications not covered by the sequencing panel. A negative result does not completely rule out CEP if clinical suspicion remains high. Results should be interpreted by a qualified healthcare professional.

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

CEP is a rare, inherited metabolic disorder caused by a deficiency in the enzyme uroporphyrinogen III synthase (URO S), encoded by the UROS gene. It affects the production of heme and leads to the accumulation of porphyrins.

This test helps confirm a diagnosis of CEP, identify the specific genetic mutation causing the condition, and provide information for genetic counselling and management.

A blood sample is typically required for this test. Please confirm the exact specimen requirements with the laboratory before collection.

Turnaround time can vary. Please confirm the expected timeframe with the laboratory before booking your test.

It is essential to discuss your test results with a qualified healthcare professional, such as a geneticist or physician, who can interpret them in the context of your medical history.

Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.

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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