Test Price
2,800 AED✅ Home Collection Available
OCRL Gene Sequencing Test for Lowe Oculocerebrorenal Syndrome
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Telephonic Post-Test Clinical Guidance for result interpretation.
- Direct Insurance Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
This advanced Next‑Generation Sequencing (NGS) test analyses the entire OCRL gene for pathogenic variants causing Lowe oculocerebrorenal syndrome, a rare X‑linked disorder affecting the eyes, brain, and kidneys. The test covers all exons and splice sites, providing definitive molecular diagnosis when clinical features suggest Lowe syndrome.
| Parameter | Our Test (OCRL NGS) | Traditional Sanger Sequencing |
|---|---|---|
| Technology | Next‑Generation Sequencing | Sanger (single‑gene) |
| Coverage | Full gene – all exons & splice sites | Limited to known hotspots |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Diagnostic Sensitivity | >99.9% | ~98% (only known variants) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I strongly recommend this NGS test for suspected Lowe syndrome. It delivers comprehensive molecular data, but results must always be integrated with clinical examination and family history. Please engage a genetic counselor for optimal interpretation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Treatment Continuity
⚠️ Important: Do not discontinue any prescribed medication without consulting your doctor. This test is for diagnostic information only and does not replace ongoing medical care.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide adequate blood/DNA sample; severe anemia (Hb <7 g/dL) – discuss alternative sample sources with our team.
- Exclusion: Recent allogeneic stem cell transplant or blood transfusion within 4 weeks may interfere with germline genetic analysis.
- Emergency: If you experience prolonged bleeding, large hematoma, or signs of infection at the collection site, seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What does the OCRL gene sequencing test detect?
This test identifies all pathogenic variants in the entire OCRL gene, confirming or ruling out Lowe oculocerebrorenal syndrome with 99.9% sensitivity. It captures missense, nonsense, splice-site mutations, and small deletions/insertions through NGS, providing a definitive molecular diagnosis when clinical features suggest Lowe syndrome. The report includes interpretation by DHA-licensed genetic consultants.
2. How is the sample collected for this genetic test?
A certified phlebotomist collects a small blood sample (3‑5 mL) via our VIP mobile phlebotomy home service between 8 AM and 11 PM. The specimen is immediately placed in a temperature-controlled cold-chain container and transported to our ISO-accredited laboratory. No special preparation is needed, but prior genetic counseling is advised.
3. What happens if my OCRL gene test result is positive?
A positive result confirms the molecular diagnosis of Lowe syndrome and triggers a multidisciplinary care plan involving neurology, nephrology, and ophthalmology. Our team provides a telephonic post-test session to explain the findings, discuss inheritance patterns (X‑linked recessive), and facilitate timely referrals. Family cascade testing and genetic counseling are arranged upon request.
4. Can I undergo this test if I have had a blood transfusion recently?
No, a blood transfusion within the last 4 weeks may interfere with germline genetic analysis. Please inform our team so we can schedule the test at the appropriate time. Alternative sample types (such as buccal swab) may be considered after consultation.
UAE Regulatory & Data Privacy Adherence
This service is operated under DNA Labs UAE (DHA Facility License No. 1143) and complies 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. All genetic data are stored and processed in full compliance with UAE healthcare regulations. Laboratory accredited to ISO 9001:2015 (Certificate: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | OCRL Gene Sequencing Test for Lowe Oculocerebrorenal Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 55217-9 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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