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Medical information Clinical review pending

Genetic Testing

POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N Genetic Test

This genetic test identifies mutations in the POMT1 gene, associated with Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N. It helps diagnose this condition, characterized by progressive muscle weakness.

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 (typically collected in an EDTA tube) or extracted DNA.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is required for a blood draw. Confirm specific requirements 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 POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N 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 experiencing progressive muscle weakness, particularly in the shoulder and hip areas.
  • ✓Patients with symptoms suggestive of limb-girdle muscular dystrophy.
  • ✓Family history of limb-girdle muscular dystrophy.
  • ✓Confirmation of diagnosis in individuals suspected of having LGMD2N.
  • ✓Genetic counseling for individuals and families affected by LGMD.
  • ✓Prenatal or preimplantation genetic diagnosis considerations for affected families.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N (LGMD2N) caused by mutations in the POMT1 gene. It aids in understanding the specific genetic cause of muscle weakness, guiding management strategies, and informing family members about potential risks.
The POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N NGS Genetic DNA Test is a specialized genetic analysis designed to detect mutations within the POMT1 gene. Mutations in this gene are linked to a specific type of limb-girdle muscular dystrophy (LGMD), a group of disorders causing progressive weakness and wasting of the muscles around the hips and shoulders. This test uses Next Generation Sequencing (NGS) technology to examine the DNA sequence of the POMT1 gene. Understanding the genetic basis of muscle weakness is crucial for accurate diagnosis, prognosis, and management. This information can also be valuable for genetic counseling and family planning. The test is typically performed on a blood sample or extracted DNA.
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 required for a blood draw. Confirm specific requirements with the laboratory before booking.
SampleA blood sample (typically collected in an EDTA tube) or extracted DNA.
MethodologyNext Generation Sequencing (NGS) of the POMT1 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the POMT1 gene. It will not detect mutations in other genes associated with limb-girdle muscular dystrophy or other neuromuscular disorders. A negative result does not completely rule out LGMD, as other genetic causes may be involved. The test may not detect all possible types of mutations within the POMT1 gene. 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

LGMD is a group of genetic disorders characterized by progressive weakness and wasting of the muscles, primarily affecting the shoulder and hip girdles.
The POMT1 gene provides instructions for making a protein involved in the proper functioning of muscles. Mutations in this gene can lead to LGMD2N.
Individuals showing symptoms of muscle weakness, especially around the hips and shoulders, or those with a family history of LGMD, may be candidates for this test.
Results will be analyzed by a specialist. A genetic counselor can help interpret the findings and discuss implications for health management and family planning.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
NGS technology is highly accurate for detecting mutations within the targeted gene. However, limitations exist, and results should be interpreted by a qualified healthcare professional.
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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