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Genetic Testing

TJP1 Gene TJP1 Deficiency Genetic Test

Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TJP1 gene associated with TJP1 deficiency, a rare metabolic disorder. Early diagnosis aids in management and treatment.

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 (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Results
Approximately 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
No special preparation is typically required for this test. Confirm with the laboratory before booking.
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 TJP1 Gene TJP1 Deficiency 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 symptoms suggestive of TJP1 deficiency, such as developmental delays or neurological deficits.
  • ✓Family history of TJP1 deficiency or related metabolic disorders.
  • ✓Genetic counseling for family planning.
  • ✓Confirmation of suspected TJP1 deficiency based on clinical findings.
02

In plain language

What this test helps you understand

This test helps identify mutations in the TJP1 gene, confirming a diagnosis of TJP1 deficiency. This information can guide clinical management, treatment options, and genetic counseling for affected individuals and families.
The TJP1 Gene TJP1 Deficiency NGS Genetic DNA Test is a diagnostic tool used to identify genetic changes in the TJP1 gene. These changes can cause TJP1 deficiency, a rare metabolic disorder that may lead to significant health problems. Early and accurate diagnosis is important for managing the condition effectively.

This test uses advanced Next-Generation Sequencing (NGS) technology to examine the TJP1 gene for mutations. Detecting these mutations helps confirm a diagnosis of TJP1 deficiency, which can present with neurological symptoms and other metabolic issues.

Understanding the results of this test can help patients and their healthcare providers make informed decisions about treatment and management strategies. Genetic counseling is often recommended to discuss the implications of the test results for the individual and their family.
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 special preparation is typically required for this test. Confirm with the laboratory before booking.
SampleBlood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
MethodologyNext-Generation Sequencing (NGS) of the TJP1 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 TJP1 gene. It may not detect all possible mutations, such as large deletions or duplications, or mutations in regulatory regions. 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

TJP1 deficiency is a rare metabolic disorder caused by mutations in the TJP1 gene. It can lead to various health complications, including neurological issues.
The test is performed using Next-Generation Sequencing (NGS) technology on a blood sample to analyze the TJP1 gene for mutations.
Individuals with symptoms suggestive of TJP1 deficiency, a family history of the disorder, or those seeking genetic counseling may be recommended for this test.
Results are typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
It is recommended to discuss the results with your healthcare provider or a genetic counselor to understand their implications and plan next steps.
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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