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Medical information Clinical review pending

Genetic Testing

IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test

Genetic test to detect mutations in the IFT122 gene, associated with Cranioectodermal Dysplasia Type 1, a condition affecting skull and facial development. Utilizes 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 (EDTA tube) or Saliva sample (specific collection kit). Confirm with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is typically required for a blood or saliva sample. However, confirm specific instructions with the laboratory before the appointment.
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 IFT122 Gene Cranioectodermal Dysplasia Type 1 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 suspected Cranioectodermal Dysplasia Type 1 based on clinical features.
  • ✓Family members of individuals diagnosed with Cranioectodermal Dysplasia Type 1.
  • ✓Prenatal diagnosis in families with a known history of IFT122 mutations.
  • ✓Confirmation of diagnosis in cases with ambiguous clinical presentation.
  • ✓Genetic counseling for families affected by the condition.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Cranioectodermal Dysplasia Type 1 by identifying mutations in the IFT122 gene. It can aid in understanding the genetic basis of the condition, guiding clinical management, and providing information for genetic counseling and family planning.
The IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test is a specialized genetic analysis designed to identify mutations within the IFT122 gene. This gene is linked to Cranioectodermal Dysplasia Type 1, a rare genetic condition impacting the development of the skull, facial bones, teeth, and hair. Early and accurate diagnosis is important for managing the condition and understanding potential health implications. This test uses advanced Next Generation Sequencing (NGS) technology to analyze the IFT122 gene for specific genetic changes. It is recommended for individuals presenting with symptoms suggestive of the disorder or for families with a history of the condition.
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 a blood or saliva sample. However, confirm specific instructions with the laboratory before the appointment.
SampleBlood sample (EDTA tube) or Saliva sample (specific collection kit). Confirm with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) is used to analyze the IFT122 gene for sequence variations.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the IFT122 gene. It may not detect mutations in other genes that could cause similar symptoms. A negative result does not completely rule out Cranioectodermal Dysplasia Type 1 if clinical suspicion remains high. The test may not detect all types of mutations (e.g., large deletions/duplications not detectable by NGS).
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

It is a rare genetic disorder affecting the development of the skull, facial bones, teeth, and hair, caused by mutations in the IFT122 gene.
Individuals showing symptoms like abnormal head shape, facial asymmetry, or developmental delays, and family members of those diagnosed with the condition, should consider this test.
The test uses advanced NGS technology for high accuracy in detecting mutations within the IFT122 gene. However, limitations exist, and results should be interpreted by a healthcare professional.
A positive result indicates the presence of mutations in the IFT122 gene associated with Cranioectodermal Dysplasia Type 1. Further consultation with a doctor is necessary.
Confirm with the laboratory before booking.
Confirm with the laboratory before booking.
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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