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Genetic Testing

TMEM67 Gene Joubert Syndrome Type 6 Genetic Test

This genetic test identifies mutations in the TMEM67 gene, associated with Joubert syndrome, a rare neurological disorder. It aids in diagnosis and 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 (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Results
Approximately 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
A clinical history of the patient is required. A genetic counseling session is recommended prior to 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 TMEM67 Gene Joubert Syndrome Type 6 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 Joubert syndrome (e.g., developmental delay, ataxia, abnormal eye movements).
  • ✓Family members of individuals diagnosed with Joubert syndrome.
  • ✓Individuals with a family history of neurological disorders.
  • ✓Genetic counseling for individuals considering family planning with a risk of hereditary neurological conditions.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Joubert syndrome type 6 by identifying mutations in the TMEM67 gene. This information can guide clinical management, prognosis, and genetic counseling.
The TMEM67 Gene Joubert Syndrome Type 6 NGS Genetic DNA Test is a specialized genetic analysis designed to help diagnose Joubert syndrome, a rare neurological condition. This disorder often presents with developmental delays and other neurological symptoms. The test uses Next Generation Sequencing (NGS) technology to look for specific changes (mutations) in the TMEM67 gene, which are known to cause this type of Joubert syndrome. Understanding genetic factors can provide important information for individuals and families.

This test specifically examines the TMEM67 gene for mutations linked to Joubert syndrome. By analyzing a DNA sample, the test can help confirm or rule out the presence of these genetic alterations. This information can be crucial for clarifying a diagnosis and guiding appropriate medical care and management strategies.

Individuals who might benefit from this test include those showing symptoms consistent with Joubert syndrome, such as developmental delays, problems with coordination (ataxia), or unusual eye movements. It may also be considered for families with a known history of similar neurological conditions or for individuals seeking genetic counseling regarding hereditary risks.

Taking this test can offer several advantages, including a more definitive diagnosis of Joubert syndrome, which allows for tailored management plans. It can also inform family planning decisions and connect individuals with relevant support services and specialists. Understanding genetic predispositions can provide peace of mind and empower proactive health management.

Our team will carefully review your results and provide clear explanations. If a mutation in the TMEM67 gene is found, we will discuss its implications and potential next steps. Even if no mutation is found, the results can offer valuable information.

To ensure the test is appropriate, a clinical history of the patient is required. A genetic counseling session is also recommended to discuss the test and create a family health history chart (pedigree).
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 →
PreparationA clinical history of the patient is required. A genetic counseling session is recommended prior to testing.
SampleBlood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS) of the TMEM67 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test only analyzes the TMEM67 gene. Other genes can also cause Joubert syndrome. A negative result does not completely rule out the condition. 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

Joubert syndrome is a rare genetic disorder that affects the brain, particularly the cerebellum, leading to developmental delays and other neurological issues.
This test specifically looks for mutations (changes) in the TMEM67 gene, which are known to cause a specific type of Joubert syndrome.
Individuals showing symptoms of Joubert syndrome, or those with a family history of the condition, may be recommended for this test.
A blood sample, extracted DNA, or a drop of blood on an FTA card can be used for this test.
Results are typically available within 3 to 4 weeks, but this can vary. Confirm with the laboratory before booking.
No, this test specifically targets the TMEM67 gene. Other genes can cause different types of Joubert syndrome.
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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