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Genetic Testing

OTC Gene Ornithine Transcarbamoylase Deficiency Genetic Test

Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the OTC gene, aiding in the diagnosis of Ornithine Transcarbamoylase Deficiency, a metabolic disorder. Confirm price and availability 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
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before sample collection.
Results
Confirm turnaround time with the laboratory before booking.
Preparation
Generally, no special preparation is required for this blood test. However, confirm any specific instructions with the laboratory or your doctor.
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 OTC Gene Ornithine Transcarbamoylase Deficiency 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.

  • ✓Newborn screening follow-up for suspected metabolic disorders.
  • ✓Individuals with symptoms suggestive of OTCD (e.g., unexplained neurological issues, lethargy, vomiting).
  • ✓Family members of individuals diagnosed with OTCD.
  • ✓Prenatal diagnosis in families with a known history of OTCD.
  • ✓Confirmation of diagnosis in individuals with elevated ammonia levels.
02

In plain language

What this test helps you understand

This test helps identify individuals with mutations in the OTC gene associated with Ornithine Transcarbamoylase Deficiency. It aids in confirming a diagnosis, understanding the genetic basis of the condition, and informing treatment strategies. Results can also be used for genetic counseling and family planning.
The OTC Gene Ornithine Transcarbamoylase Deficiency NGS Genetic DNA Test is used to identify genetic changes in the OTC gene. This gene provides instructions for making the enzyme ornithine transcarbamoylase, which plays a crucial role in processing ammonia, a waste product, in the body. Deficiencies in this enzyme can lead to Ornithine Transcarbamoylase Deficiency (OTCD), a metabolic disorder where ammonia builds up to harmful levels. This test uses advanced Next-Generation Sequencing (NGS) technology for a detailed analysis of the OTC gene. It helps detect mutations that may cause OTCD, contributing to accurate diagnosis and management.
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 →
PreparationGenerally, no special preparation is required for this blood test. However, confirm any specific instructions with the laboratory or your doctor.
SampleBlood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before sample collection.
MethodologyNext-Generation Sequencing (NGS) is used to analyze the DNA sequence of the OTC gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes specific regions of the OTC gene. It may not detect all possible mutations, such as large deletions or duplications, or mutations in non-coding regions. A negative result does not completely rule out OTCD. Interpretation requires clinical correlation.
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

OTCD is a genetic metabolic disorder where the body cannot properly process ammonia, leading to its buildup. This can cause serious health problems, especially neurological damage.
Testing may be recommended for newborns with symptoms, individuals with unexplained neurological issues or high ammonia levels, and family members of someone diagnosed with OTCD.
The test is typically performed on a blood sample. The laboratory uses Next-Generation Sequencing (NGS) to analyze the OTC gene for mutations.
Confirm the expected turnaround time with the laboratory before booking.
Results will indicate whether specific mutations in the OTC gene were detected. A genetic counselor or your doctor can help interpret the results in the context of your health history.
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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