Skip to main content
Medical information Clinical review pending

Genetic Testing

NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test

Genetic test using Next Generation Sequencing (NGS) to detect mutations in the NIPBL gene associated with Cornelia de Lange Syndrome (CdLS).

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.

Ask a question
Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
Blood sample (typically 5-10ml in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is usually required for this blood test. However, confirm with the laboratory for any specific instructions.
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 NIPBL Gene Cornelia de Lange 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.

+254

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.

  • ✓Suspected Cornelia de Lange Syndrome based on clinical features.
  • ✓Developmental delay or intellectual disability.
  • ✓Distinctive facial features associated with CdLS.
  • ✓Upper limb abnormalities.
  • ✓Growth restriction.
  • ✓Family history of Cornelia de Lange Syndrome.
  • ✓Prenatal screening if family history is relevant.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Cornelia de Lange Syndrome Type 1, which is caused by mutations in the NIPBL gene. It can provide crucial information for diagnosis, prognosis, genetic counseling, and family planning.
The NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test is a diagnostic tool used to identify mutations in the NIPBL gene. Mutations in this gene are linked to Cornelia de Lange Syndrome (CdLS), a condition characterized by developmental delays, distinctive facial features, and other physical challenges. Early diagnosis through genetic testing can help guide management and support for individuals and families affected by CdLS. This test utilizes advanced Next Generation Sequencing (NGS) technology for accurate analysis of the NIPBL gene.
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 usually required for this blood test. However, confirm with the laboratory for any specific instructions.
SampleBlood sample (typically 5-10ml in an EDTA tube). Confirm specific requirements with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) analysis of the NIPBL gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the NIPBL gene. It may not detect mutations in other genes associated with Cornelia de Lange Syndrome or other genetic conditions. A negative result does not completely rule out CdLS if clinical suspicion remains high. 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

Cornelia de Lange Syndrome (CdLS) is a genetic disorder characterized by developmental delays, distinctive facial features, growth problems, and limb abnormalities. It can affect multiple parts of the body.
Individuals showing signs or symptoms of CdLS, such as developmental delays, specific facial features, or limb differences, or those with a family history of the condition, may be recommended for this test.
The NIPBL gene test is highly accurate for detecting mutations within that specific gene. However, it's important to discuss the test's limitations and interpretation with a healthcare professional.
If the test is positive, it confirms a diagnosis related to the NIPBL gene. A genetic counselor can help explain the results and their implications for health and family planning.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
A blood sample is typically required for this test. Collection can often be done at one of our branches or via a home collection service.
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.

Keep exploring

Related tests

View all tests →
Chat on WhatsApp