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Medical information Clinical review pending

Genetic Testing

TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test

Genetic test to identify mutations in the TSEN54 gene associated with Pontocerebellar Hypoplasia type 4, a neurological disorder. Helps understand genetic risks and inform care.

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
Confirm with the laboratory before booking.
Preparation
A clinical history of the patient is required. A genetic counseling session is recommended prior to testing to discuss the implications and draw a 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 TSEN54 Gene Pontocerebellar Hypoplasia Type 4 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 symptoms suggestive of Pontocerebellar Hypoplasia type 4.
  • ✓Developmental delays or motor coordination issues.
  • ✓Family history of Pontocerebellar Hypoplasia type 4.
  • ✓Genetic counseling for individuals with neurological disorders.
  • ✓Confirmation of diagnosis when clinical suspicion is high.
02

In plain language

What this test helps you understand

This test helps identify specific genetic mutations in the TSEN54 gene associated with Pontocerebellar Hypoplasia type 4. It can aid in confirming a diagnosis, understanding the genetic cause of neurological symptoms, informing prognosis, guiding management strategies, and providing information for genetic counseling and family planning.
The TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test is a diagnostic tool used to identify mutations in the TSEN54 gene. Mutations in this gene are linked to Pontocerebellar Hypoplasia (PCH) type 4, a condition affecting the development of the cerebellum and brainstem, leading to neurological symptoms. Understanding the genetic basis of this condition is important for diagnosis, management, and family planning. This test uses Next-Generation Sequencing (NGS) technology to analyze genetic material from a sample. Results are interpreted by qualified medical professionals to provide insights into the condition and potential implications.
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 is recommended prior to testing to discuss the implications and draw a family pedigree.
SampleBlood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
MethodologyNext-Generation Sequencing (NGS) is used to detect mutations in the TSEN54 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the TSEN54 gene. It may not detect mutations in other genes associated with similar conditions. 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

PCH type 4 is a rare genetic disorder characterized by the underdevelopment of the cerebellum and brainstem, leading to neurological symptoms.
Individuals with symptoms like developmental delays or motor issues, or those with a family history of PCH type 4, may benefit from this test.
The test analyzes a sample of your blood or DNA to look for specific mutations in the TSEN54 gene using Next-Generation Sequencing (NGS).
Results are interpreted by qualified geneticists or neurologists who will discuss the findings and their implications with you.
Yes, genetic counseling before and after testing is highly recommended to understand the test's implications and discuss results.
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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