Test Price
2,800 AED✅ Home Collection Available
CYP27B1 Gene Test for Vitamin D-Dependent Rickets Type 1 (Genetic Test) in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test examines the entire coding sequence of the CYP27B1 gene to identify variants responsible for Vitamin D-Dependent Rickets Type 1 (VDDR-1), a rare autosomal recessive disorder that impairs calcium homeostasis. Our NGS methodology delivers comprehensive coverage, pinpointing both known and novel variants to guide life-long calcitriol therapy.
| Feature | Our Test (NGS) | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – Full gene analysis | Targeted Sanger sequencing of hotspots only |
| Precision | 99.9% diagnostic sensitivity for all variant types | Limited to pre-defined mutations; may miss novel variants |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Clinical Utility | Definitive diagnosis, carrier detection, and family planning | Confirmatory only for common mutations; limited family screening |
Physician Insight & Safety Protocols
“Every child deserves a clear diagnosis and a tailored treatment plan. Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403) emphasizes that this genetic test unveils the root cause of vitamin D-resistant rickets, but clinical correlation with biochemical markers and physical examination remains essential. We encourage families to view the results as a guiding light, not a sole verdict.”
Medication Warning
Do not discontinue prescribed medication (especially high-dose vitamin D analogues or calcium supplements) without consulting your doctor. Abrupt changes may lead to dangerous electrolyte imbalances.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Recent blood transfusion (within 2 weeks) may cause donor DNA interference; alternative buccal swab sample is recommended in such cases.
- Emergency Red Flags: If the patient experiences severe hypocalcemic seizures, tetany, muscle cramps with cardiac arrhythmias, or altered mental status, seek immediate medical attention—do not wait for test results.
- Pre-Test Requirement: A genetic counselling session to draw a comprehensive pedigree chart is strongly advised to interpret familial implications.
Patient FAQ & Clinical Guidance
1. What is the CYP27B1 gene and why is it tested for rickets?
CYP27B1 encodes the enzyme that converts 25-hydroxyvitamin D to its active form, and mutations cause vitamin D-dependent rickets type 1, necessitating lifelong calcitriol therapy.
2. How should I prepare for the test, and what sample is needed?
You can provide a whole blood sample, extracted DNA, or a simple finger-prick blood spot on an FTA card; a genetic counselling session beforehand is recommended to map family history.
3. What does a positive result mean for my child’s treatment?
A positive result confirms the genetic defect and directs clinicians to initiate high-dose active vitamin D (calcitriol) and calcium supplementation, often reversing bone deformities and biochemical abnormalities.
UAE Regulatory & Data Privacy Adherence
Data Protection & Privacy: All genetic testing services adhere to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and licensed by DHA (Facility License No. 1143).
Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | CYP27B1 Gene Test for Vitamin D-Dependent Rickets Type 1 |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Finger-Prick Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Analysis |
| ICD-10-CM Code | E83.31 |
| LOINC Code | 91851-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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