Medical information Clinical review pending

Genetic Testing

OFD1 Gene Joubert Syndrome Type 10 Genetic Test

This genetic test analyzes the OFD1 gene to identify mutations associated with Joubert syndrome type 10, a neurological disorder. It aids in diagnosis and treatment planning.

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 Extracted DNA. A single drop of blood on an FTA card may also be acceptable. 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, providing a detailed clinical history and family medical history (pedigree chart) is essential for accurate interpretation. 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 OFD1 Gene Joubert Syndrome Type 10 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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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.

✓Individuals presenting with symptoms suggestive of Joubert syndrome (e.g., developmental delays, coordination problems, abnormal eye movements).
✓Patients with a clinical diagnosis of Joubert syndrome requiring genetic confirmation.
✓Family members of individuals diagnosed with Joubert syndrome type 10.
✓Individuals with a family history of neurological disorders potentially related to OFD1 mutations.

In plain language

What this test helps you understand

This test helps confirm a diagnosis of Joubert syndrome type 10, which can guide appropriate medical management and care. It also provides information for genetic counseling and family planning.

The OFD1 Gene Joubert Syndrome Type 10 NGS Genetic DNA Test is a specialized genetic analysis focused on the OFD1 gene. Mutations in this gene are linked to Joubert syndrome, a rare neurological disorder affecting development and causing physical abnormalities. Understanding the genetic basis is crucial for accurate diagnosis, guiding treatment strategies, and providing appropriate family counseling. This test specifically looks for changes in the OFD1 gene that cause Joubert syndrome type 10. Identifying these mutations helps healthcare providers confirm a diagnosis and understand potential health implications for the patient. Results are interpreted by healthcare professionals, often in conjunction with genetic counselors, to explain their meaning for the individual's health and their family.

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, providing a detailed clinical history and family medical history (pedigree chart) is essential for accurate interpretation. A genetic counseling session is recommended prior to testing.

SampleBlood sample (EDTA tube) or Extracted DNA. A single drop of blood on an FTA card may also be acceptable. Confirm specific requirements with the laboratory before booking.

MethodologyNext Generation Sequencing (NGS) is used to analyze the OFD1 gene for specific mutations.

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

This test specifically analyzes the OFD1 gene. It will not detect mutations in other genes that can cause Joubert syndrome or other neurological disorders. A negative result does not completely rule out Joubert syndrome if clinical suspicion is 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 that affects the brain, particularly the cerebellum, leading to developmental delays, coordination problems, and other physical abnormalities.

This test specifically looks for mutations (changes) in the OFD1 gene, which are known to cause a specific type of Joubert syndrome (type 10).

Individuals showing symptoms of Joubert syndrome, those with a clinical diagnosis needing confirmation, or family members of affected individuals may be recommended for this test.

Results are interpreted by healthcare professionals, often with the help of genetic counselors, to understand the implications for the patient's health and family.

A genetic counseling session is recommended before testing to discuss the test, its implications, and family history. Please confirm if counseling is included with the test package.

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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