Medical information Clinical review pending

Genetic Testing

ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test

Genetic test for ATP5F1E gene mutations, identifying potential causes of mitochondrial complex V deficiency and related neurological disorders. Utilizes Next Generation Sequencing (NGS).

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) or extracted DNA. A dried blood spot on an FTA card may also be acceptable. Confirm with the laboratory before booking.
Results: Results are typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation: No specific patient preparation is required for a blood draw. Follow standard instructions provided by the phlebotomist.

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 ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 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.

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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.

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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.

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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.

✓Unexplained neurological symptoms
✓Muscle weakness or hypotonia
✓Developmental delays
✓Seizures
✓Family history of mitochondrial disorders
✓Suspected mitochondrial disease

In plain language

What this test helps you understand

This test helps identify mutations in the ATP5F1E gene associated with mitochondrial complex V deficiency, aiding in the diagnosis of specific neurological disorders and related conditions. It can provide insights into the underlying genetic cause of symptoms, potentially guiding treatment strategies and genetic counseling.

The ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 NGS Genetic DNA Test is designed to identify mutations within the ATP5F1E gene. This gene provides instructions for making a part of the ATP synthase enzyme, which is essential for energy production within mitochondria, the cell's powerhouses. Deficiencies in this enzyme can lead to various health problems, particularly affecting the nervous system. This test uses advanced Next Generation Sequencing (NGS) technology to analyze the ATP5F1E gene for specific changes. Understanding these genetic changes can be crucial for diagnosing conditions associated with mitochondrial dysfunction and guiding appropriate medical care. This test is particularly relevant for individuals experiencing symptoms suggestive of mitochondrial disease.

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.

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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 specific patient preparation is required for a blood draw. Follow standard instructions provided by the phlebotomist.

SampleBlood sample (EDTA tube) or extracted DNA. A dried blood spot on an FTA card may also be acceptable. Confirm with the laboratory before booking.

MethodologyNext Generation Sequencing (NGS) is used to analyze the ATP5F1E gene for sequence variations.

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

This test specifically analyzes the ATP5F1E gene. It does not detect mutations in other genes associated with mitochondrial disorders. A negative result does not completely rule out a mitochondrial disease, as other genetic causes may be involved. The test may not detect all possible types of mutations.

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 ATP5F1E gene provides instructions for making a part of the ATP synthase enzyme, which is vital for energy production in the mitochondria.

This test uses Next Generation Sequencing (NGS) to look for specific mutations (changes) in the ATP5F1E gene that can cause mitochondrial complex V deficiency.

Individuals with symptoms like muscle weakness, neurological decline, developmental delays, or seizures, especially if there's a family history of mitochondrial disorders, may benefit from this test.

A blood sample is typically required. In some cases, extracted DNA or a dried blood spot on an FTA card may be used. Please confirm the specific requirement with the lab.

The turnaround time is generally 3 to 4 weeks, but this can vary. Confirm the current turnaround time with the laboratory.

A positive result indicates mutations in the ATP5F1E gene. A negative result means no specific mutations were found in the tested regions of the gene. Discuss your results with your doctor for interpretation.

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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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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