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Medical information Clinical review pending

Genetic Testing

PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures Genetic Test

Genetic test using Next Generation Sequencing (NGS) to analyze the PLOD2 gene. Helps diagnose Osteogenesis Imperfecta (OI) and congenital joint contractures, identifying mutations linked to connective tissue disorders. 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
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Results
Approximately 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
A clinical history must be provided. A genetic counseling session is required prior to testing to establish a family pedigree.
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 PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures 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.

  • ✓Frequent bone fractures with minimal trauma
  • ✓Bone deformities or joint contractures present from birth
  • ✓Family history of Osteogenesis Imperfecta
  • ✓Unexplained bone pain or growth issues in children
  • ✓Diagnosis confirmation for suspected PLOD2-related OI
02

In plain language

What this test helps you understand

This test helps identify mutations in the PLOD2 gene associated with Osteogenesis Imperfecta (OI) and congenital joint contractures. It can aid in confirming a diagnosis, understanding the specific genetic cause, and guiding management strategies. Results may also inform family planning decisions.
This test analyzes the PLOD2 gene using Next Generation Sequencing (NGS) technology. The PLOD2 gene plays a key role in the development of connective tissues, such as collagen, which are essential for bone strength and joint function. Mutations in this gene can lead to Osteogenesis Imperfecta (OI), a group of genetic disorders characterized by brittle bones that fracture easily, and congenital joint contractures. This test is designed to identify specific mutations within the PLOD2 gene that may be causing these conditions. Understanding the genetic basis of OI can help healthcare providers offer appropriate management strategies and support. A genetic counseling session is recommended to discuss the test and its results.
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 →
PreparationA clinical history must be provided. A genetic counseling session is required prior to testing to establish a family pedigree.
SampleBlood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS)
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the PLOD2 gene. It does not detect mutations in other genes associated with Osteogenesis Imperfecta or similar conditions. Results may be inconclusive in some cases. 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

OI is a group of genetic disorders primarily affecting bones, making them brittle and prone to fracture. It is often referred to as 'brittle bone disease'.
These are joint deformities present at birth, limiting the range of motion in the affected joints.
Individuals with symptoms like frequent fractures, bone deformities, joint contractures, or a family history of OI should discuss this test with their doctor.
A follow-up genetic counseling session is highly recommended to help you understand your results and discuss any implications.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
Yes, home sample collection services are available for your convenience. Please contact the laboratory to arrange.
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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