Genetic Testing
COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test
This genetic test identifies mutations in the COLQ gene, which can cause specific neuromuscular disorders. It uses Next Generation Sequencing (NGS) technology to provide accurate results for individuals experiencing muscle weakness or respiratory issues.
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.
At a glance
Plan your test
- Sample
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Results
- Confirm with the laboratory before booking.
- Preparation
- No special preparation is required. Confirm with the laboratory before booking.
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 COLQ Gene Endplate Acetylcholinesterase 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.
Providers & schemes we can help you check
Government & public schemes
Eligibility and benefits follow the current rules of the Social Health Authority (SHA) and applicable government programmes.
Private insurers & employer schemes
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.
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.
- ✓Muscle weakness
- ✓Respiratory difficulties
- ✓Fatigue after physical activity
- ✓Family history of neuromuscular disorders
- ✓Suspected congenital myasthenic syndrome
- ✓Evaluation of neuromuscular junction disorders
In plain language
What this test helps you understand
This test specifically looks for mutations in the COLQ gene. This gene plays a crucial role in the proper functioning of the neuromuscular junction, the connection between nerves and muscles. Abnormalities in the COLQ gene can lead to conditions such as congenital myasthenic syndrome, which is characterized by muscle weakness and fatigue.
Individuals showing symptoms like muscle weakness, respiratory difficulties, fatigue after physical activity, or those with a family history of neuromuscular disorders may benefit from this test. A genetic counseling session is recommended before testing to help understand the test and its implications, including creating a family history chart.
Taking this test can lead to an accurate diagnosis of genetic neuromuscular disorders, guide treatment options and management strategies, and inform family planning and risk assessment for relatives. The test utilizes advanced NGS technology for precise results.
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 →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 →Read your report
What common result terms mean
Questions people ask
Frequently asked questions
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.
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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