Test Price
2,800 AED✅ Home Collection Available
LRP5 Gene Osteoporosis‑Pseudoglioma Syndrome DNA Test (NGS) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for pathogenic LRP5 variants via whole‑gene NGS with copy number variant detection, processed under ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Whole blood (EDTA), extracted DNA, or FTA card accepted.
- Clinical Guidance: Complimentary post‑test telephonic interpretation by DHA‑licensed genetic counsellors.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The LRP5 Gene Osteoporosis‑Pseudoglioma Syndrome DNA Test employs next‑generation sequencing (NGS) to detect pathogenic variants in the LRP5 gene, confirming or excluding autosomal recessive osteoporosis‑pseudoglioma syndrome (OPPG). This analysis supports definitive diagnosis, family cascade screening, and reproductive planning. The assay covers all coding exons ±20 bp flanking regions and detects both single‑nucleotide variants and copy number alterations. Results are correlated with clinical phenotype and radiographic findings to ensure accurate interpretation.
| Feature | Our Test (Premium NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Whole‑gene NGS with CNV detection | Targeted single‑exon Sanger |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
| Mutation Coverage | All coding exons ±20 bp; deep intronic regions | Limited to known hotspots |
| UAE DHA Compliance | Full – ISO 9001:2015 & DHA Facility License 1143 | Variable |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: “An NGS‑based LRP5 analysis provides the highest diagnostic yield for osteoporosis‑pseudoglioma syndrome, detecting both exonic and deep intronic variants. However, results must be interpreted alongside clinical bone density measurements and ophthalmologic assessments; a negative result does not exclude the condition if alternative genetic or metabolic aetiologies are present.”
Medication Advisory
⚠️ Do not discontinue any prescribed calcium, vitamin D, bisphosphonate therapy, or other bone‑modifying agents without consulting your managing physician. This test informs diagnosis and long‑term management planning, not acute treatment changes.
Absolute Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent following mandatory genetic counselling.
- Active haemodynamic instability or acute illness requiring immediate hospitalisation.
- Emergency red flags: Sudden vision loss, pathological fractures with neurovascular compromise, or signs of retinal detachment – proceed directly to the nearest emergency department; do not delay for phlebotomy.
Patient FAQ & Clinical Guidance
1. Which specialists interpret the LRP5 test results?
A clinical geneticist, a paediatric orthopaedic surgeon, and an ophthalmologist jointly review LRP5 results to correlate genotype with bone and eye phenotypes. The geneticist provides risk assessment and family counselling; the orthopaedist manages bone fragility and fracture risk; the ophthalmologist monitors for pseudoglioma progression and retinal health. DHA‑licensed teams coordinate care through our telephonic guidance service.
2. What sample types are accepted and how should they be collected?
We accept whole blood in EDTA tubes, extracted DNA (minimum 1 µg), or a single drop of blood on an FTA card collected during our home visit. For FTA cards, the collection site must be cleaned with alcohol and the card dried completely before cold‑chain transport. Fasting is not required. A clinical history and pedigree chart must be provided prior to testing. VIP mobile phlebotomy is available daily from 8 AM to 11 PM with temperature‑controlled cold‑chain logistics.
3. How does UAE law protect my genetic data?
Your genomic information is stored and processed under 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. Data is encrypted at rest and in transit, retained for the statutory period, and never shared without explicit consent. Genetic counselling sessions are mandatory to ensure informed decision‑making. Clinical safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
4. What is the turnaround time and how will I receive results?
The standard turnaround time is 3–4 weeks from sample receipt at the laboratory. Results are delivered via a secure digital portal and a printed clinical report signed by the consultant geneticist. A complimentary telephonic interpretation session is scheduled within 5 business days of report release.
5. Can this test be used for prenatal diagnosis?
Yes, with appropriate pre‑test and post‑test genetic counselling. The test can be performed on chorionic villus sampling (CVS) or amniotic fluid specimens collected at an accredited hospital. Additional consent and ethical approval are required per UAE regulations. Hospital extraction only – sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety.
UAE Regulatory & Data Privacy Adherence
Your personal and genomic data are fully protected under 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. All genetic information is encrypted, access‑controlled, and retained only for the duration required by UAE health regulations. Results are never disclosed to third parties without your explicit written consent. DNA Labs UAE operates under DHA Facility License 1143 and adheres to the highest standards of clinical data governance.
Clinical & Logistical Metadata
| Test Name | LRP5 Gene Osteoporosis‑Pseudoglioma Syndrome DNA Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | M89.8 |
| LOINC Code | 81246-7 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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