Medical information Clinical review pending

Genetic Testing

TCTN2 Gene Joubert Syndrome Type 24 Genetic Test

Genetic test to identify mutations in the TCTN2 gene associated with Joubert syndrome, a neurological disorder. Uses Next-Generation Sequencing (NGS) technology.

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 specific requirements with the laboratory before booking.
Results: Confirm with the laboratory before booking.
Preparation: No specific patient preparation is required for the blood draw. However, a genetic counseling session prior to testing is strongly recommended to discuss the test's implications and family history.

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 TCTN2 Gene Joubert Syndrome Type 24 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.

✓Symptoms suggestive of Joubert syndrome (e.g., developmental delay, coordination issues, abnormal eye movements).
✓Family history of Joubert syndrome.
✓Confirmation of a clinical diagnosis.
✓Genetic counseling for individuals or families affected by neurological disorders.
✓Prenatal diagnosis in families with a known history of TCTN2-related Joubert syndrome.

In plain language

What this test helps you understand

This test helps identify specific genetic mutations in the TCTN2 gene that are known to cause Joubert syndrome. It aids in confirming a clinical diagnosis, understanding the genetic basis of the condition, and providing information for genetic counseling and family planning.

The TCTN2 Gene Joubert Syndrome Type 24 NGS Genetic DNA Test is an advanced genetic analysis designed to detect mutations in the TCTN2 gene. Mutations in this gene are linked to Joubert syndrome, a rare genetic disorder affecting the brain, particularly the cerebellum, which controls balance and coordination. This condition can also impact breathing, eye movements, and cognitive development. Early and accurate diagnosis through this test is important for understanding the condition, managing symptoms, and planning appropriate care. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the DNA for specific genetic variations. Genetic counseling is recommended before and after testing to help understand the results and their implications.

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 specific patient preparation is required for the blood draw. However, a genetic counseling session prior to testing is strongly recommended to discuss the test's implications and family history.

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

MethodologyNext-Generation Sequencing (NGS) is used to analyze the TCTN2 gene for pathogenic variants.

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

This test specifically analyzes the TCTN2 gene. It will not detect mutations in other genes that can cause Joubert syndrome or similar conditions. A negative result does not completely rule out Joubert syndrome if clinical suspicion remains high. Confirm with the laboratory before booking.

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

Joubert syndrome is a rare genetic disorder affecting the brain, primarily the cerebellum, leading to issues with coordination, balance, breathing, and eye movements.

This test specifically looks for mutations (changes) in the TCTN2 gene, which are known to cause a specific type of Joubert syndrome.

Genetic counseling helps you understand the test, its potential results, the implications for you and your family, and how to interpret the findings.

No, this test only analyzes the TCTN2 gene. Other genes can also cause Joubert syndrome, so a negative result doesn't rule it out entirely.

A blood sample is typically required for this test. We offer sample collection at our branches or potentially home collection; please inquire for details.

Turnaround time varies. Please contact the laboratory for the current estimated timeframe.

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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