Test Price
2,800 AED✅ Home Collection Available
CLCN5 Gene Hypophosphatemic Rickets Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 validated Next‑Generation Sequencing and bioinformatics pipeline.
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- ✓Clinical Guidance: Complimentary telephonic post‑test clinical interpretation session with a DHA‑licensed genetic specialist.
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 before sample collection.
Test Overview & Methodology
The comprehensive NGS-based analysis of the CLCN5 gene definitively identifies pathogenic variants responsible for Dent disease (X‑linked hypophosphatemic rickets). This test sequences all exons, splice junctions, and flanking intronic regions with industry‑leading read depth, enabling accurate molecular diagnosis and targeted treatment planning.
| Feature | Our Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS (100% coding exons + splice sites) | Single‑exon Sanger (limited coverage) |
| Diagnostic Sensitivity | 99.9% for substitutions, indels, CNVs | ~70–80% (iterative testing may be needed) |
| Turnaround Time | 3–4 weeks | 6–8 weeks (multi-step) |
| Genetic Counseling | Included (pedigree chart + post‑test call) | Often not included |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “As a clinical geneticist who has evaluated numerous families with inherited phosphate wasting disorders, I emphasize that the CLCN5 NGS result must be integrated with serum phosphate, calcium, PTH, and renal function parameters. A confirmed genetic diagnosis enables precise phosphate supplementation and active vitamin D analogs that significantly improve growth outcomes and bone health. The molecular finding is a cornerstone, yet the full clinical picture remains paramount for management.”
Advisory: Medication Continuation
⚠️ MEDICATION WARNING: Do not discontinue prescribed phosphate supplements or active vitamin D without consulting your treating physician. Abrupt cessation may provoke severe hypocalcemia, tetany, or rapid progression of rickets. Always carry a list of current medications to your appointment.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Individuals without clinical or biochemical suspicion of hypophosphatemic rickets (low serum phosphate, elevated alkaline phosphatase, renal phosphate wasting); this test is not intended for asymptomatic carrier screening without appropriate genetic counseling.
- Exclusion: Sample contamination or insufficient DNA yields; recollection may be required.
- ER Red Flags – seek immediate emergency care if you experience: generalized seizures, sudden inability to walk or bear weight (pathological fracture), severe tetany, or respiratory distress.
Patient FAQ & Clinical Guidance
1. What is the CLCN5 gene test and who should consider it?
The CLCN5 NGS test identifies mutations in the CLCN5 gene causing Dent disease, an X‑linked recessive disorder with hypophosphatemic rickets. It is recommended for children with vitamin‑D‑refractory rickets, hypercalciuria, low‑molecular‑weight proteinuria, or a family history of Dent disease. Adults with unexplained kidney stones or early‑onset chronic kidney disease may also benefit.
2. How is the test performed and what is the sample requirement?
A simple blood draw or cheek swab is collected by our DHA‑licensed home phlebotomist through VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (available daily from 8 AM to 11 PM). Whole blood, dried blood spots on an FTA card, or previously extracted DNA are all accepted. For young children, a single drop of blood on a special filter card is minimally invasive and equally reliable. Genetic counseling and a family pedigree chart are completed before sample dispatch.
3. How long do results take and what does a positive result mean?
Results are delivered in 3–4 weeks with a post‑genetic counseling session included. A positive result confirms the diagnosis of Dent disease, enabling targeted therapy with oral phosphate and active vitamin D (calcitriol) to correct bone mineralization. It also triggers family screening because the condition follows an X‑linked inheritance pattern.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Security:
- All genetic data is processed in full compliance with 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 testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Your genomic information is encrypted, access‑controlled, and never shared without explicit written consent. DNA Labs UAE maintains ISO 9001:2015 certification for quality management systems.
Clinical & Logistical Metadata
| Test Name | CLCN5 Gene Hypophosphatemic Rickets NGS Panel |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood, Cheek Swab (Buccal), or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full coding exons, splice junctions, and flanking intronic regions |
| ICD-10-CM Code | E83.31 (Hypophosphatemic rickets), N25.8 (Dent disease) |
| LOINC Code | 94086-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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