Test Price
2,800 AED✅ Home Collection Available
PRPS1 Gene CMTX5 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
The PRPS1 Gene NGS Test delivers definitive molecular confirmation for X-linked Charcot-Marie-Tooth Disease type 5 (CMTX5), a rare inherited peripheral neuropathy. Performed under DHA regulatory oversight at our ISO 9001:2015 accredited laboratory, this full-gene sequencing assay achieves 99.9% analytical sensitivity for single nucleotide variants and small indels. The comprehensive package includes a mandatory pre-test genetic counselling session for three-generation pedigree documentation, telephonic post-test clinical guidance, and VIP Mobile Phlebotomy with temperature-controlled cold-chain transport available daily from 8 AM to 11 PM.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Mandatory pre-test genetic counselling with pedigree charting and telephonic post-test clinical guidance session.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PRPS1 Gene NGS Test is a comprehensive genetic screen for pathogenic variants causing X-linked Charcot-Marie-Tooth Disease type 5 (CMTX5), a rare inherited peripheral neuropathy characterized by distal muscle wasting, sensory loss, and potential hearing impairment. This Next Generation Sequencing analysis examines the entire coding region of the phosphoribosyl pyrophosphate synthetase 1 gene, providing definitive molecular confirmation for clinicians managing complex neurological disorders.
| Diagnostic Feature | Our Test (Elite Plan) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Full Gene Sequencing) | Single Gene Sanger (Limited) |
| Coverage | Entire Coding Region + Splice Sites | Exon-specific Hotspots Only |
| Turnaround Time | 3 to 4 Weeks (Rigorous Validation) | 6 to 8 Weeks (Standard) |
| Clinical Validation | ClinVar & HGMD Pro Annotated | Basic Reference Alignment |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I recognize the diagnostic complexity surrounding inherited neuropathies such as CMTX5. The PRPS1 gene NGS assay provides the molecular resolution needed to confirm the clinical suspicion, guide prognostic discussions, and enable cascade testing for at-risk family members. It is equally critical to integrate these genetic findings with a thorough neurological examination and nerve conduction studies to avoid misattribution of variants of uncertain significance."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Critical Medication Advisory
Do not discontinue prescribed medication, including neuropathic pain modulators or assistive mobility devices, based solely on genetic results. Clinical management changes must exclusively be directed by your treating neurologist following a comprehensive review of all diagnostic data.
Safety Exclusion Criteria & Emergency Red Flags
Ensure patient safety. Do not proceed with home collection if any of the following apply:
- Exclusion Criteria: Active febrile illness, lack of capacity to consent in a minor (Minors strictly require guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability), or anticoagulant therapy at levels incompatible with safe venipuncture.
- Emergency Red Flags (Direct to ER): Sudden onset of respiratory distress, rapidly progressive quadriparesis, or new-onset bulbar symptoms. These constitute a medical emergency separate from this scheduled genetic test.
Patient FAQ & Clinical Guidance
1. How accurate is this PRPS1 gene test for confirming classic CMTX5 neuropathy?
The analytical accuracy exceeds 99.9% for single nucleotide variants and small indels within the captured regions, utilizing NGS with a minimum 30x read depth and complementary Sanger confirmation of all pathogenic findings. The test covers the entire coding region and flanking splice sites of the PRPS1 gene, ensuring comprehensive variant detection.
2. Can I use an existing DNA sample or FTA card instead of a fresh blood draw?
Yes, the laboratory accepts whole blood in EDTA, previously extracted high-quality DNA, or one dried blood spot on a validated FTA card. These flexible collection options eliminate the need for repeat venipuncture and are especially suitable for paediatric patients or international referrals requiring sample shipment.
3. What genetic counselling support is included with the 2800 AED price?
The comprehensive package includes a mandatory pre-test consultation to document a detailed three-generation pedigree chart, risk assessment for carrier status within the family, and a telephonic post-test clinical guidance session to interpret the molecular findings and discuss implications for reproductive planning and family cascade testing.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under UAE federal law.
All genetic testing and data handling procedures at DNA Labs UAE strictly comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that your genomic information is processed lawfully, stored securely, and never shared without your explicit consent. Additionally, our laboratory information systems and telehealth workflows adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing end-to-end encryption and audit trail integrity for all digital health records.
Our DHA-licensed facility (License No. 1143) undergoes annual regulatory inspection to maintain compliance with UAE genetic testing standards and international best practices for clinical laboratory quality management.
Clinical & Logistical Metadata
| Test Name | PRPS1 Gene CMTX5 Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Business Days (3 to 4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted Genomic DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation of Pathogenic Variants |
| ICD-10-CM Code | G60.0 (Hereditary Motor and Sensory Neuropathy) |
| LOINC Code | 59001-0 (PRPS1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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