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Medical information Clinical review pending

Genetic Testing

DHCR24 Gene Desmosterolosis Genetic Test

Genetic test to identify mutations in the DHCR24 gene associated with desmosterolosis, a rare genetic disorder. 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), extracted DNA, or dried blood spot (FTA card). Confirm specific requirements with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
A genetic counseling session is recommended prior to sample collection to discuss clinical history and family pedigree.
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 DHCR24 Gene Desmosterolosis 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 a family history of desmosterolosis.
  • ✓Patients presenting with symptoms suggestive of dysmorphology.
  • ✓Parents seeking genetic counseling for potential inherited conditions.
  • ✓Individuals with a known or suspected DHCR24 gene mutation.
02

In plain language

What this test helps you understand

Identifies mutations in the DHCR24 gene, aiding in the diagnosis of desmosterolosis and related conditions. Helps understand genetic predispositions and informs family planning.
The DHCR24 Gene Desmosterolosis NGS Genetic DNA Test is an advanced genetic diagnostic tool designed to detect mutations in the DHCR24 gene, which are responsible for desmosterolosis, a rare genetic disorder. This test utilizes Next Generation Sequencing (NGS) technology, allowing for precise and comprehensive analysis of genetic material. Understanding your genetic make-up is vital, particularly for families with a history of genetic conditions.

This test specifically measures variations in the DHCR24 gene. By identifying these genetic mutations, healthcare providers can determine the likelihood of developing desmosterolosis and related dysmorphological conditions.

Sample Collection and Requirements The sample type required for this test can be blood, extracted DNA, or even a single drop of blood on an FTA card. Prior to testing, patients are advised to undergo a genetic counseling session to discuss their clinical history and draw a pedigree chart of family members affected by the DHCR24 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 →
PreparationA genetic counseling session is recommended prior to sample collection to discuss clinical history and family pedigree.
SampleBlood sample (EDTA tube), extracted DNA, or dried blood spot (FTA card). Confirm specific requirements with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) analysis of the DHCR24 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test detects mutations within the DHCR24 gene but may not identify all possible genetic causes of similar conditions. Results should be interpreted in conjunction with clinical findings and family history.
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

Desmosterolosis is a rare genetic disorder caused by mutations in the DHCR24 gene. It affects cholesterol synthesis and can lead to various physical and developmental issues.
Individuals with a family history of desmosterolosis, those showing symptoms, or parents concerned about genetic risks should consider this test.
A blood sample, extracted DNA, or a dried blood spot on an FTA card can be used. Please confirm the exact requirement with the lab.
Confirm with the laboratory before booking.
A genetic counseling session is recommended before testing to discuss the test and its implications. Post-test counseling is also available.
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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