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Genetic Testing

MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test

Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MMACHC gene, aiding in the diagnosis of Methylmalonic aciduria (CblC type), a metabolic disorder. Confirm with the laboratory before booking.

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. Typically, 3-5 mL of whole blood collected in an EDTA tube (purple top). Confirm specific volume and tube type with the laboratory before booking.
Results: Confirm with the laboratory before booking.
Preparation: No special preparation is typically required for this blood test. Patients should follow standard instructions regarding fasting if advised by their physician. 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 MMACHC Gene Methylmalonic Aciduria CblC Type 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.

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.

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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.

✓Individuals presenting with symptoms suggestive of Methylmalonic aciduria (e.g., developmental delay, poor feeding, lethargy, vomiting).
✓Family members of individuals diagnosed with Methylmalonic aciduria.
✓Patients with unexplained metabolic acidosis or elevated methylmalonic acid levels.
✓Prenatal diagnosis in families with a known history of MMACHC-related Methylmalonic aciduria.
✓Genetic counseling for individuals with a family history of metabolic disorders.

In plain language

What this test helps you understand

This test helps identify mutations in the MMACHC gene, which are the cause of Methylmalonic aciduria (CblC type). Identifying these mutations can confirm a diagnosis, guide treatment strategies, and inform genetic counseling for affected individuals and their families.

The MMACHC Gene Methylmalonic Aciduria CblC Type NGS Genetic DNA Test is a specialized genetic analysis used to help diagnose Methylmalonic aciduria, a metabolic disorder. This condition occurs when the body cannot properly break down certain proteins and fats, leading to a buildup of methylmalonic acid. This test uses advanced Next-Generation Sequencing (NGS) technology to examine the MMACHC gene for specific mutations associated with this disorder. Early and accurate diagnosis is important for managing the condition effectively and preventing potential health complications. This test is particularly relevant for individuals suspected of having this metabolic disorder based on clinical symptoms or family history. We offer convenient sample collection options, including home visits in Nairobi, Mombasa, and Kisumu. Please contact us to discuss your specific needs and arrange testing.

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 special preparation is typically required for this blood test. Patients should follow standard instructions regarding fasting if advised by their physician. Confirm with the laboratory before booking.

SampleA blood sample is required for this test. Typically, 3-5 mL of whole blood collected in an EDTA tube (purple top). Confirm specific volume and tube type with the laboratory before booking.

MethodologyNext-Generation Sequencing (NGS) is used to analyze the MMACHC gene. This involves sequencing the DNA from the patient's blood sample and comparing it to a reference sequence to identify variations or mutations.

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

This test analyzes the coding regions and specific splice sites of the MMACHC gene. It may not detect all possible mutations, such as deep intronic mutations or large deletions/duplications. A negative result does not completely rule out Methylmalonic aciduria. Results should be interpreted alongside clinical findings and other relevant tests. 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

Methylmalonic aciduria is a rare inherited metabolic disorder where the body has difficulty processing certain amino acids and fatty acids, leading to a buildup of methylmalonic acid.

This test helps confirm the diagnosis of Methylmalonic aciduria caused by mutations in the MMACHC gene, which is crucial for appropriate management and treatment.

A blood sample is required. The laboratory will provide specific instructions on collection.

Turnaround time varies. Please contact the laboratory for the current estimated timeframe.

Results are typically interpreted by a qualified healthcare professional, such as a geneticist or physician, often in consultation with a genetic counselor.

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

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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