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Medical information Clinical review pending

Genetic Testing

TUFT1 Gene Tuftelin Deficiency Genetic Test

Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TUFT1 gene associated with tuftelin deficiency, which can cause osteology, dermatology, and immunology disorders.

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, extracted DNA, or one drop of blood on an FTA card.
Results
Typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
Provide a clinical history and attend a genetic counseling session to create a pedigree chart of affected family members. 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 TUFT1 Gene Tuftelin 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.

  • ✓Symptoms suggestive of osteology disorders.
  • ✓Symptoms suggestive of dermatology disorders.
  • ✓Symptoms suggestive of immunology disorders.
  • ✓Family history of tuftelin deficiency or related genetic conditions.
  • ✓To guide treatment options.
  • ✓For genetic counseling purposes.
02

In plain language

What this test helps you understand

Identifies mutations in the TUFT1 gene associated with tuftelin deficiency, aiding in the diagnosis of related osteology, dermatology, and immunology disorders.
The TUFT1 Gene Tuftelin Deficiency NGS Genetic DNA Test is a diagnostic tool used to identify genetic mutations linked to tuftelin deficiency. This condition can manifest as various disorders affecting bones (osteology), skin (dermatology), and the immune system (immunology). Early detection through genetic testing is important for managing these conditions effectively.

This test specifically analyzes the TUFT1 gene using advanced Next Generation Sequencing (NGS) technology. NGS allows for a detailed examination of the gene to detect mutations that may cause tuftelin deficiency.

Understanding the genetic basis of symptoms can lead to better management strategies and informed decisions about family planning and genetic counseling. Results will be provided in a clear format, explaining any identified mutations and their potential implications, along with guidance on next steps.
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 →
PreparationProvide a clinical history and attend a genetic counseling session to create a pedigree chart of affected family members. Confirm with the laboratory before booking.
SampleBlood sample, extracted DNA, or one drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS) analysis of the TUFT1 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test detects mutations within the TUFT1 gene. It may not detect all possible genetic causes of the patient's 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

Tuftelin deficiency is a genetic condition caused by mutations in the TUFT1 gene. It can lead to various disorders affecting bones, skin, and the immune system.
Individuals with symptoms related to osteology, dermatology, or immunology disorders, or those with a family history of related conditions, may benefit from this test.
The test analyzes a sample of your blood, extracted DNA, or a blood spot on an FTA card using Next Generation Sequencing (NGS) technology to look for mutations in the TUFT1 gene.
Results will indicate whether any mutations in the TUFT1 gene were found. A genetic counselor can help explain the results and their implications for your health and family.
Results are typically available within 3 to 4 weeks, but this can vary. Confirm with the laboratory before booking.
You can book the test by calling or WhatsApping us at +254711564616. We offer home sample collection services.
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.

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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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