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Medical information Clinical review pending

Genetic Testing

CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test

Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CYP27B1 gene, associated with Vitamin D dependent rickets type 1. Helps diagnose metabolic disorders related to Vitamin D metabolism.

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, Extracted DNA, or One drop of blood on an FTA card.
Results
Results are typically available within 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
A clinical history of the patient is required. Genetic counseling is recommended to establish a family pedigree chart, especially if there is a family history of rickets or related disorders.
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 CYP27B1 Gene Rickets Vitamin D Dependent Type 1 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.

  • ✓Children with symptoms suggestive of rickets (e.g., bone pain, deformities, delayed growth).
  • ✓Individuals with a history of Vitamin D deficiency or related metabolic disorders.
  • ✓Family history of rickets or genetic disorders affecting Vitamin D metabolism.
  • ✓Confirmation of suspected Vitamin D dependent rickets type 1.
02

In plain language

What this test helps you understand

This test helps identify genetic mutations in the CYP27B1 gene, which can cause Vitamin D dependent rickets type 1. It aids in the diagnosis of metabolic disorders related to Vitamin D metabolism, guiding appropriate management and treatment strategies.
The CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test is an advanced diagnostic tool used to identify genetic mutations linked to Rickets, a condition often resulting from issues with Vitamin D metabolism. This test employs Next-Generation Sequencing (NGS) technology for a precise and thorough analysis of the CYP27B1 gene, which is essential for converting Vitamin D into its active form. Understanding the function of this gene is key to diagnosing certain metabolic disorders. This test helps healthcare providers determine if specific genetic changes in the CYP27B1 gene are causing Vitamin D dependent rickets type 1 or related conditions. Confirm with the laboratory before booking.
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 of the patient is required. Genetic counseling is recommended to establish a family pedigree chart, especially if there is a family history of rickets or related disorders.
SampleBlood sample, Extracted DNA, or One drop of blood on an FTA card.
MethodologyNext-Generation Sequencing (NGS) is used to analyze the CYP27B1 gene for specific genetic mutations.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the CYP27B1 gene. It may not detect mutations in other genes associated with rickets or Vitamin D metabolism. Results should be interpreted in conjunction with clinical findings and other relevant tests. 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

This is a rare genetic disorder affecting Vitamin D metabolism, leading to rickets (softening and weakening of bones) in children. It is caused by mutations in the CYP27B1 gene.
Individuals, especially children, showing signs of rickets, those with a history of Vitamin D issues, or families with a known history of this condition may benefit from this test.
A blood sample, extracted DNA, or a single drop of blood on an FTA card can be used for this test.
The turnaround time for results is typically 3 to 4 weeks, but this can vary. Confirm with the laboratory before booking.
The test looks for specific changes (mutations) in the CYP27B1 gene, which is responsible for activating Vitamin D in the body.
No, this test specifically targets mutations in the CYP27B1 gene associated with Vitamin D dependent rickets type 1. Other genetic causes of rickets exist.
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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