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Medical information Clinical review pending

Genetic Testing

SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test

Genetic test analyzing the SMC1A gene to help diagnose Cornelia de Lange Syndrome Type 2, a condition affecting development and growth. Uses 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 (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Results
Results are typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
No special preparation is typically 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 SMC1A Gene Cornelia de Lange Syndrome Type 2 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 exhibiting physical features suggestive of Cornelia de Lange Syndrome.
  • ✓Individuals with developmental delays or intellectual disability.
  • ✓Family history of Cornelia de Lange Syndrome.
  • ✓Prenatal diagnosis if a parent is a carrier or has CdLS.
  • ✓Confirmation of diagnosis based on clinical suspicion.
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 2 by identifying mutations in the SMC1A gene. It can provide a definitive genetic diagnosis, which is important for prognosis, management, and genetic counseling.
The SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic DNA Test is a diagnostic tool used to identify genetic changes (mutations) in the SMC1A gene associated with Cornelia de Lange Syndrome (CdLS) Type 2. CdLS is a genetic disorder characterized by a variety of physical, cognitive, and developmental challenges. Early and accurate diagnosis through genetic testing is important for understanding the condition, managing symptoms, and accessing appropriate support.

This test utilizes Next Generation Sequencing (NGS) technology to analyze the SMC1A gene. NGS allows for a detailed examination of the gene's sequence to detect specific mutations that can cause CdLS Type 2.

Understanding the genetic basis of CdLS can provide valuable information for individuals and families, aiding in medical management and family planning decisions.
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 this blood test. However, confirm with the laboratory for any specific instructions.
SampleBlood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) is used to analyze the SMC1A gene for mutations.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the SMC1A gene. It will not detect mutations in other genes that can cause Cornelia de Lange Syndrome or other genetic conditions. A negative result does not completely rule out CdLS if clinical suspicion remains high, as other genetic causes may exist. 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) Type 2 is a genetic disorder characterized by distinctive facial features, limb abnormalities, growth problems, and varying degrees of intellectual disability. It is caused by mutations in the SMC1A gene.
This test is recommended for individuals who have symptoms suggestive of CdLS Type 2, such as specific physical features or developmental delays, or those with a family history of the condition.
The test involves analyzing a blood sample to look for mutations in the SMC1A gene using Next Generation Sequencing (NGS) technology.
Results are typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
A genetic counselor or physician will discuss the results with you, explaining their meaning and implications for your health and family. Genetic counseling is recommended.
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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