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Medical information Clinical review pending

Genetic Testing

CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test

Genetic test to identify mutations in the CHMP1A gene associated with Pontocerebellar Hypoplasia Type 8, a neurological disorder. Helps in diagnosis and management.

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
A blood sample is required for this test. Confirm 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. 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 CHMP1A Gene Pontocerebellar Hypoplasia Type 8 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 8.
  • ✓Developmental delays.
  • ✓Motor skill difficulties.
  • ✓Coordination problems.
  • ✓Family history of Pontocerebellar Hypoplasia or related neurological disorders.
  • ✓Confirmation of suspected PCH8 diagnosis.
02

In plain language

What this test helps you understand

This test helps confirm a diagnosis of Pontocerebellar Hypoplasia Type 8 (PCH8) by identifying mutations in the CHMP1A gene. A confirmed diagnosis can guide clinical management, provide information for genetic counseling, and inform family planning decisions.
This genetic test specifically looks for changes (mutations) in the CHMP1A gene. Mutations in this gene are linked to Pontocerebellar Hypoplasia Type 8 (PCH8), a rare neurological condition affecting the development of the cerebellum and pons in the brain. This underdevelopment can lead to various neurological symptoms.

The test uses Next Generation Sequencing (NGS) technology to analyze a DNA sample for specific variations in the CHMP1A gene. Identifying these mutations can help confirm a diagnosis of PCH8 or related conditions.

This test is recommended for individuals showing signs of neurological disorders, particularly those involving developmental delays, movement difficulties, or coordination issues. It may also be considered for families with a history of PCH8 or similar neurological conditions. Discussing your specific situation with a healthcare provider or genetic counselor is important before proceeding with the test.
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. Confirm with the laboratory before booking.
SampleA blood sample is required for this test. Confirm with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) is used to analyze the CHMP1A gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the CHMP1A gene. It may not detect mutations in other genes that could cause similar symptoms. A negative result does not completely rule out a genetic cause for the symptoms. 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

Pontocerebellar Hypoplasia Type 8 (PCH8) is a rare genetic neurological disorder characterized by the underdevelopment of the cerebellum and pons in the brain, leading to various neurological symptoms.
Individuals experiencing symptoms like developmental delays, motor difficulties, or coordination problems, especially with a family history of PCH8 or related conditions, may be candidates for this test. Consult your doctor.
The test involves analyzing a DNA sample, usually obtained from a blood sample, to look for specific mutations in the CHMP1A gene using Next Generation Sequencing (NGS).
The laboratory typically provides results within 3 to 4 weeks. Confirm with the laboratory before booking.
A healthcare provider or genetic counselor will help interpret the results and discuss their implications for diagnosis, management, and family planning.
Yes, genetic counseling is highly recommended before and after testing to understand the test's implications, interpret results, and discuss family risks.
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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