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Genetic Testing

CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test

This genetic test identifies mutations in the CHST14 gene, associated with Ehlers-Danlos Syndrome, musculocontractural type 1. It uses Next Generation Sequencing (NGS) for accurate analysis.

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), extracted DNA, or one drop of blood on an FTA card.
Results
Approximately 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
A clinical history of the patient is required. A genetic counseling session to create a pedigree chart of affected family members is recommended prior to testing. 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 CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural 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 clinical features suggestive of Ehlers-Danlos Syndrome, musculocontractural type 1.
  • ✓Family history of Ehlers-Danlos Syndrome or related connective tissue disorders.
  • ✓Confirmation of diagnosis in suspected cases.
  • ✓Genetic counseling for affected individuals and families.
  • ✓Family planning for individuals with a known or suspected CHST14 mutation.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Ehlers-Danlos Syndrome, musculocontractural type 1, by identifying mutations in the CHST14 gene. It aids in understanding the genetic basis of the condition, guiding management, and informing family planning.
The CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 NGS Genetic DNA Test is a diagnostic tool used to detect mutations in the CHST14 gene. This gene is linked to a rare genetic condition called Ehlers-Danlos Syndrome (EDS), specifically the musculocontractural type 1. The test utilizes Next Generation Sequencing (NGS) technology for detailed genetic analysis.

This test focuses on identifying changes within the CHST14 gene. This gene provides instructions for making an enzyme important for building certain components of connective tissue. Mutations can disrupt this process, leading to the symptoms associated with EDS, musculocontractural type 1.

Individuals experiencing symptoms suggestive of this type of EDS, such as joint stiffness, contractures, and skin changes, may benefit from this test. It is also recommended for individuals with a family history of EDS or related connective tissue disorders to understand their genetic risk.

Taking this test can provide several benefits, including a definitive diagnosis, guidance for managing the condition, and information for family planning. Understanding the genetic basis of the condition can help healthcare providers tailor appropriate care. Results will be interpreted by genetic counselors and healthcare professionals to explain their significance.

To perform the test, a sample of blood, extracted DNA, or a single drop of blood on an FTA card is required. A detailed clinical history and genetic counseling session, including a family pedigree chart, are essential before testing.
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 →
PreparationA clinical history of the patient is required. A genetic counseling session to create a pedigree chart of affected family members is recommended prior to testing. Confirm with the laboratory before booking.
SampleBlood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS) of the CHST14 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test only analyzes the CHST14 gene. It will not detect mutations in other genes associated with different types of Ehlers-Danlos Syndrome or other connective tissue disorders. A negative result does not completely rule out EDS 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

This is a rare genetic disorder affecting connective tissue, characterized by joint stiffness, contractures, and sometimes skin changes. It is caused by mutations in the CHST14 gene.
Individuals with symptoms like joint stiffness, contractures, or a family history of this condition should discuss testing with their doctor.
A blood sample, extracted DNA, or a single drop of blood on an FTA card is required.
Results are typically available within 3 to 4 weeks.
No, this test specifically looks for mutations in the CHST14 gene, associated only with the musculocontractural type 1. Other tests are needed for different types.
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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