Medical information Clinical review pending

Genetic Testing

KMT2D Gene Kabuki Syndrome Type 1 Genetic Test

Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KMT2D gene associated with Kabuki syndrome type 1. Helps diagnose this rare genetic disorder characterized by distinctive facial features and developmental delays.

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: A blood sample (usually 3-5 mL) is required. Confirm specific requirements with the laboratory before booking.
Results: Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Preparation: No special preparation is typically required for this blood test. 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 KMT2D Gene Kabuki Syndrome 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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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.

✓Individuals with clinical features suggestive of Kabuki syndrome (e.g., distinctive facial features, developmental delay, intellectual disability).
✓Children with unexplained growth delays or developmental issues.
✓Family history of Kabuki syndrome.
✓Confirmation of diagnosis in suspected cases.
✓Genetic counseling for families with affected members.

In plain language

What this test helps you understand

This test helps confirm a clinical suspicion of Kabuki syndrome type 1 by identifying pathogenic variants in the KMT2D gene. It can aid in diagnosis, prognosis, and genetic counseling for affected individuals and their families.

The KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test is a diagnostic tool used to detect mutations in the KMT2D gene, the primary cause of Kabuki syndrome type 1. This rare genetic disorder affects multiple body systems and is often characterized by distinctive facial features, growth delays, intellectual disability, and other developmental challenges. Early and accurate diagnosis is important for understanding the condition, managing symptoms, and providing appropriate support. This test utilizes advanced Next Generation Sequencing (NGS) technology to analyze the KMT2D gene thoroughly. Confirm with the laboratory before booking.

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 special preparation is typically required for this blood test. Confirm with the laboratory before booking.

SampleA blood sample (usually 3-5 mL) is required. Confirm specific requirements with the laboratory before booking.

MethodologyNext Generation Sequencing (NGS) is used to analyze the KMT2D gene for sequence variations.

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

This test primarily analyzes the KMT2D gene. It may not detect mutations in other genes that could cause similar symptoms. Results should be interpreted in the context of clinical findings and family history. 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

Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delays, intellectual disability, and other health issues. It is most commonly caused by mutations in the KMT2D gene.

This test is recommended for individuals, often children, who show clinical signs suggestive of Kabuki syndrome, such as distinctive facial features or developmental delays. It can also be considered for families with a history of the condition.

The test uses advanced NGS technology for comprehensive analysis of the KMT2D gene, providing high accuracy in detecting mutations associated with Kabuki syndrome type 1.

A genetic counselor or physician will help interpret the results. Discussing the findings with a healthcare professional is crucial to understand the implications for diagnosis, management, and family planning.

Insurance coverage varies. Confirm coverage details with your insurance provider and the laboratory before booking the test.

A blood sample is typically required for this test. The laboratory can provide details on sample collection procedures, including options for home collection if available.

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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