Medical information Clinical review pending

Genetic Testing

ITGA6 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia Genetic Test

Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ITGA6 gene associated with Epidermolysis Bullosa Junctionalis and Pyloric Atresia.

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 Saliva sample. Confirm specific requirements with the laboratory before booking.
Results: Confirm turnaround time with the laboratory before booking.
Preparation: No special preparation is typically required for a blood or saliva sample. 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 ITGA6 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia 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.

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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 clinical symptoms suggestive of Epidermolysis Bullosa Junctionalis.
✓Individuals with clinical symptoms suggestive of Pyloric Atresia.
✓Family history of Epidermolysis Bullosa Junctionalis or Pyloric Atresia.
✓Genetic counseling for individuals or families with a history of these conditions.
✓Prenatal diagnosis in high-risk pregnancies (requires specialist consultation).

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Epidermolysis Bullosa Junctionalis or Pyloric Atresia related to ITGA6 gene mutations. It can aid in understanding the genetic basis of these conditions, which may inform prognosis and management strategies. Results can also be used for genetic counseling regarding family planning and inheritance risks.

The ITGA6 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia NGS Genetic DNA Test is a diagnostic tool used to identify genetic mutations linked to specific forms of epidermolysis bullosa (a group of rare skin disorders causing blistering) and pyloric atresia (a blockage in the stomach outlet present at birth). This test utilizes advanced Next Generation Sequencing (NGS) technology to analyze the ITGA6 gene. Understanding mutations in this gene is crucial for diagnosing these conditions and understanding their underlying causes. This test can provide valuable information for individuals with symptoms or a family history of these disorders.

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 or saliva sample. However, confirm with the laboratory for any specific instructions.

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

MethodologyNext Generation Sequencing (NGS) is used to analyze the coding regions and potentially other relevant areas of the ITGA6 gene for sequence variations (mutations).

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

This test specifically analyzes the ITGA6 gene. 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 ITGA6 gene. Results should be interpreted in the context of clinical findings and family history.

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

This is a rare genetic skin disorder characterized by fragile skin that blisters easily, often from minor friction or trauma. It affects the junction between the epidermis and dermis.

This is a congenital condition where the pylorus, the opening from the stomach into the small intestine, is blocked or absent, preventing food from passing through.

Individuals with symptoms of these conditions, a family history of these conditions, or those seeking genetic counseling should discuss this test with their doctor.

A healthcare professional, often a genetic counselor, will interpret the results in the context of your medical history and symptoms. They will explain the findings and their implications.

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

Yes, a saliva sample may be an option. Please confirm the acceptable sample types with the laboratory before collection.

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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