Test Price
2,800 AED✅ Home Collection Available
PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
This Next‑Generation Sequencing test precisely identifies pathogenic variants in the PEX5 gene associated with Rhizomelic Chondrodysplasia Punctata Type 5 (RCDP5). Performed at DNA Labs UAE (DHA License 1143), the assay delivers 99.9% analytical sensitivity and specificity within an ISO 15189:2022 accredited workflow. The service includes VIP mobile phlebotomy, temperature‑controlled cold‑chain logistics, and mandatory post‑test genetic counseling by our Consultant Medical Genetics.
Test Overview & Methodology
Rhizomelic Chondrodysplasia Punctata Type 5 is a severe peroxisomal biogenesis disorder characterized by proximal limb shortening, cataracts, characteristic dysmorphic features, and profound global developmental delay. Pathogenic variants in the PEX5 gene impair peroxisomal protein import, leading to defective plasmalogen synthesis and phytanic acid accumulation. This targeted NGS assay examines all coding exons and highly conserved intronic boundaries of the PEX5 gene, providing definitive molecular confirmation essential for accurate prognosis, medical management, and family counseling.
| Feature | Our Test – PEX5 NGS (UAE) | Closest Alternative |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) – full gene analysis | Targeted mutation panel / Sanger (limited loci) |
| Precision | 99.9% analytical sensitivity & specificity (ISO‑validated) | ~95% for common mutations only |
| Turnaround Time | 3–4 weeks | 4–8 weeks (often sent abroad) |
| Logistics | ISO‑certified cold‑chain home collection (8 AM‑11 PM) & local lab | Clinic visit; sample shipping delays |
| Price | 2,800 AED | Often >4,000 AED (incl. shipping) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognize the profound responsibility that accompanies precise molecular diagnoses. This dedicated PEX5 sequencing test equips clinicians and families with the definitive answers required for accurate prognostic counseling, targeted therapeutic planning, and informed reproductive decisions. Every result must be contextualized within the complete clinical presentation and reviewed during a specialized genetic counseling session.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Safety Advisory
Medication Advisory
Do not discontinue any prescribed medications or therapies without direct consultation with your treating physician. This genetic test serves as a diagnostic adjunct and does not replace acute clinical care or established treatment protocols.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
This test is not recommended for individuals with uncontrolled bleeding diathesis or severe thrombocytopenia unless prior clearance is obtained from a pediatric hematologist. In such cases, an alternative sample type (e.g., FTA card spot) may be substituted after clinical evaluation.
Emergency Red Flags
If the patient experiences acute respiratory distress, new‑onset seizures, severe feeding intolerance, or sudden neurological deterioration, proceed immediately to the nearest hospital emergency department. This molecular test does not substitute for urgent medical assessment or intervention.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the PEX5 genetic test?
This test detects pathogenic variants in the PEX5 gene responsible for Rhizomelic Chondrodysplasia Punctata Type 5, enabling a definitive molecular diagnosis. The result guides prognosis, facilitates targeted surveillance for associated complications (cataracts, seizures, feeding difficulties), and empowers families with accurate recurrence risk information for reproductive planning.
2. How is the sample collected and what is the turnaround time?
A standard peripheral whole blood sample, FTA card spot, or extracted DNA is collected by our trained phlebotomists. We provide VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM. Results are typically available within 3–4 weeks from sample receipt at our Dubai Healthcare City laboratory.
3. Is pre-test genetic counseling provided with this test?
Yes, mandatory pre-test counseling is conducted by our Consultant Medical Genetics, Lina Osama Zaki Quteineh (DHA 9294403), to ensure informed consent. Post-test counseling is also provided to explain the implications of the results for the patient and their family members.
4. How does insurance billing work for this genetic test?
Our dedicated billing verification team provides direct confirmation of insurance coverage via WhatsApp (+971 54 548 8731) prior to sample collection. We coordinate with all major UAE insurers to facilitate pre-authorization and manage the complete paperwork process on your behalf.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly complies with the 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 clinical testing safety protocols and patient consent processes adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is managed with rigorous confidentiality and security within our DHA-licensed facility in Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | PEX5 Gene Sequencing (Rhizomelic Chondrodysplasia Punctata Type 5) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, FTA Card Spot, or Extracted DNA (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Coding Region & Conserved Intronic Boundaries |
| ICD-10-CM Code | E71.510 (Rhizomelic Chondrodysplasia Punctata) |
| LOINC Code | 47875-4 (PEX5 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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