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Medical information Clinical review pending

Genetic Testing

EXPH5 Gene Epidermolysis Bullosa Nonspecific Autosomal Recessive Genetic Test

This genetic test identifies mutations in the EXPH5 gene associated with epidermolysis bullosa, a condition causing fragile, blistering skin. It uses Next Generation Sequencing (NGS) for accurate results.

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
3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
Provide a detailed clinical history. A genetic counseling session, including a pedigree chart of affected family members, is recommended before testing.
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 EXPH5 Gene Epidermolysis Bullosa Nonspecific Autosomal Recessive 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 with a family history of epidermolysis bullosa.
  • ✓Individuals exhibiting symptoms of skin fragility, blistering, or unusual skin lesions.
  • ✓Individuals seeking genetic counseling for family planning.
  • ✓Confirmation of diagnosis in suspected cases.
02

In plain language

What this test helps you understand

This test helps identify individuals with mutations in the EXPH5 gene, which can cause epidermolysis bullosa. Understanding the genetic basis can aid in diagnosis, prognosis, genetic counseling, and family planning.
The EXPH5 Gene Epidermolysis Bullosa Nonspecific Autosomal Recessive NGS Genetic DNA Test is a diagnostic tool used to identify genetic mutations linked to epidermolysis bullosa. This group of rare skin disorders is characterized by skin that blisters and tears easily. The test utilizes Next Generation Sequencing (NGS) technology to provide precise insights into the genetic basis of this condition.

This test specifically analyzes the EXPH5 gene, which is important for skin integrity. By examining DNA, healthcare providers can determine if an individual carries a mutation associated with epidermolysis bullosa.

This test is recommended for individuals with a family history of epidermolysis bullosa or related skin disorders, those experiencing symptoms like skin fragility or blistering, or those seeking genetic counseling for family planning.
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 →
PreparationProvide a detailed clinical history. A genetic counseling session, including a pedigree chart of affected family members, is recommended before testing.
SampleBlood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS) technology.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the EXPH5 gene. It will not detect mutations in other genes associated with epidermolysis bullosa. A negative result does not completely rule out all forms of epidermolysis bullosa. 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

Epidermolysis bullosa is a group of rare genetic skin disorders that cause the skin to be very fragile and blister easily.
This test looks for specific genetic mutations in the EXPH5 gene that are known to cause certain types of epidermolysis bullosa.
This test is typically recommended for individuals with symptoms of epidermolysis bullosa or a family history of the condition.
A sample can be collected as a blood draw, extracted DNA, or a single drop of blood on a special card.
Results are typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
Your doctor or a genetic counselor will explain the results. A positive result indicates the presence of an EXPH5 mutation. Discuss the implications with your healthcare provider.
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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