Test Price
2,800 AED✅ Home Collection Available
CYP2R1 Gene Rickets, Vitamin D 25-Hydroxylation-Deficient, Type 1B Genetic Test in UAE – 2,800 AED
Executive Summary & Core Metrics
This high-precision Next-Generation Sequencing (NGS) test detects pathogenic variants in the CYP2R1 gene, the definitive diagnostic tool for Vitamin D-Dependent Rickets Type 1B. Delivered with 99.9% diagnostic sensitivity through an ISO 9001:2015 accredited facility, the service includes premium home-collection logistics, cold‑chain transport, and post‑test telephonic clinical guidance to ensure accurate result interpretation.
- 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 targeted NGS panel sequences the full coding region of CYP2R1, identifying loss‑of‑function mutations responsible for defective 25‑hydroxylation of vitamin D. It is the gold‑standard molecular test to confirm the genetic subtype of rickets, clarify prognosis, and guide lifelong therapy. In contrast, a routine 25‑OH vitamin D blood test only quantifies circulating metabolite levels but cannot reveal the heritable cause.
| Feature | Our Test (CYP2R1 NGS) | Closest Alternative (Vitamin D Total 25-OH Immunoassay) |
|---|---|---|
| Precision | Single‑nucleotide resolution; full gene coverage | Quantitative immunoassay; no DNA insight |
| Method | Next‑Generation Sequencing (NGS) | Chemiluminescence Immunoassay (CLIA) |
| Turnaround | 3–4 Weeks (comprehensive interpretation) | 1–2 Days |
| Clinically Actionable | Identifies carrier status and guides genetic counselling | Indicates current vitamin D status only |
Physician Insight & Safety Protocols
“Genetic confirmation of CYP2R1‑related rickets is a cornerstone for precision management; however, test results must be interpreted in the context of a complete clinical and biochemical picture. I encourage every patient to discuss the findings with a qualified clinical geneticist or pediatric endocrinologist. Never discontinue any prescribed vitamin D or calcium supplements without your doctor’s explicit advice, as abrupt cessation may provoke hypocalcemic complications.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Stopping vitamin D or calcium therapy unsupervised may lead to acute hypocalcemia, tetany, or seizures. Always coordinate with your treating physician before making any changes.
Exclusion Criteria & ER Red Flags
- Exclusion: Active severe hemophilia or uncontrolled bleeding disorder (risk with venipuncture).
- Exclusion: Recent blood transfusion within 2 weeks (may interfere with DNA extraction).
- Red Flag – Seek Emergency Care: Sudden bone deformities, muscle spasms, difficulty breathing, or seizures — these may indicate severe hypocalcemia unrelated to the testing procedure.
- Red Flag: If experiencing acute allergic reaction to skin antiseptic used during home collection, wash the area and contact our team immediately.
Patient FAQ & Clinical Guidance
1. What exactly does this CYP2R1 NGS test diagnose, and how does it compare to a normal vitamin D blood test?
This test reads the entire CYP2R1 gene using next‑generation sequencing to pinpoint mutations causing vitamin D 25‑hydroxylation‑deficient rickets type 1B, a genetic disorder that cannot be detected by a standard vitamin D metabolite panel.
2. Is home blood collection genuinely possible for a Genetic Test, and how is the sample transported?
Yes, our DHA‑compliant VIP mobile phlebotomy service collects a small blood sample or a single drop on a specialized FTA card from your home, which is then transported in validated cold‑chain conditions to preserve DNA integrity. The service is available daily from 8 AM to 11 PM.
3. How reliable is the NGS result, and what should I do after receiving it?
The test delivers >99.9% analytical sensitivity for single nucleotide variants and small indels, and every report includes a telephonic clinical guidance session with a genetic specialist to help you integrate the findings under your doctor’s supervision.
UAE Regulatory & Data Privacy Adherence
Clinical & Logistical Metadata
| Test Name | CYP2R1 Gene Rickets, Vitamin D 25-Hydroxylation-Deficient, Type 1B Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA) or Dried Blood Spot on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coding region analysis |
| ICD-10-CM Code | E83.31 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians