Medical information Clinical review pending

Genetic Testing

ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test

Genetic test using Next Generation Sequencing (NGS) to analyze the ELOVL4 gene for variations associated with ichthyosis, spastic quadriplegia, and mental retardation. Helps in diagnosing rare genetic disorders affecting skin and neurological function.

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: A blood sample (usually 5-10ml) is required. Confirm specific volume and collection tube type 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 a blood draw. Patients should inform the laboratory if they are on any medications. 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 ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation 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.

Full name *

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.

WhatsApp the claims team Call us

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 presenting with symptoms suggestive of ichthyosis, spastic quadriplegia, and mental retardation.
✓Family history of ichthyosis, spastic quadriplegia, or mental retardation.
✓Genetic counseling for individuals or families concerned about hereditary risks.
✓Confirmation of diagnosis in suspected cases.
✓Prenatal or preimplantation genetic diagnosis considerations (requires specialist consultation).

In plain language

What this test helps you understand

This test helps identify genetic mutations in the ELOVL4 gene associated with a specific syndrome characterized by ichthyosis, spastic quadriplegia, and mental retardation. It aids in confirming a diagnosis, understanding the genetic basis of the condition, and informing management strategies.

The ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation NGS Genetic DNA Test is a specialized diagnostic tool that uses Next Generation Sequencing (NGS) technology to examine the ELOVL4 gene. This test is important for identifying specific genetic disorders linked to this gene, which can manifest as ichthyosis (a skin condition), spastic quadriplegia (a form of cerebral palsy affecting all four limbs), and mental retardation (intellectual disability). Understanding these conditions is crucial for early diagnosis and appropriate management, allowing healthcare providers to develop tailored care plans. This test analyzes the sequence of the ELOVL4 gene to detect mutations that may be responsible for these symptoms. It is recommended for individuals with relevant symptoms or a family history of these conditions. The results can provide clarity, facilitate early intervention, aid in family planning, and offer peace of mind through accurate diagnosis. A genetic counselor will be available to help interpret the results and discuss their implications.

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 →

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 a blood draw. Patients should inform the laboratory if they are on any medications. Confirm with the laboratory before booking.

SampleA blood sample (usually 5-10ml) is required. Confirm specific volume and collection tube type with the laboratory before booking.

MethodologyNext Generation Sequencing (NGS) is used to analyze the ELOVL4 gene sequence.

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

This test analyzes specific regions of the ELOVL4 gene. It may not detect all possible mutations, such as deep intronic changes or large deletions/duplications not detectable by NGS. A negative result does not completely rule out a genetic cause for the symptoms. 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

The ELOVL4 gene provides instructions for making an enzyme involved in the production of certain fats (lipids) important for skin and nerve cell function.

Mutations in the ELOVL4 gene are associated with a rare genetic disorder characterized by ichthyosis (dry, scaly skin), spastic quadriplegia (muscle stiffness and weakness in all four limbs), and intellectual disability.

Individuals with symptoms like severe dry skin, muscle stiffness, developmental delays, or a family history of similar conditions should discuss this test with their doctor.

A genetic counselor will help interpret the results, explaining what the findings mean for the individual and their family, and discussing potential implications for health and family planning.

Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.

You can book the test by calling or WhatsApping us at +254711564616. We offer services at various branches and home sample collection.

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

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