Test Price
2,800 AEDโ Home Collection Available
PMP22 Gene CMT1E Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM)
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance with DHA-Certified Consultant Medical Genetics
- โ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The PMP22 Gene CMT1E NGS test identifies point mutations in the PMP22 gene responsible for Charcot-Marie-Tooth disease type 1E, a hereditary peripheral neuropathy characterized by progressive muscle wasting and sensory loss. This test uses next-generation sequencing to analyse the entire coding region of PMP22, providing definitive diagnosis for symptomatic individuals and enabling presymptomatic testing in at-risk family members.
| Feature | Our Test (NGS) | Closest Alternative (MLPA) |
|---|---|---|
| Methodology | Next-Generation Sequencing | Multiplex Ligation-dependent Probe Amplification |
| Detection Spectrum | All mutation types (point mutations, small indels) | Only PMP22 duplications/deletions |
| Sensitivity for CMT1E | >99.9% | Not applicable (misses CMT1E point mutations) |
| Turnaround Time | 3โ4 Weeks | 2 Weeks |
Physician Insight & Safety Protocols
โUnderstanding the genetic basis of CMT1E provides clarity not only for the patient but also for at-risk family members. This test enables accurate genetic counselling and proactive neurorehabilitation planning. I always remind my patients that results must be discussed with a clinical geneticist before any medical decisions are made.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Requirements & Medication Caution
- Provide a detailed clinical history including age of onset, nerve conduction study results, and family pedigree.
- A DHA-certified genetic counselling session is mandatory prior to testing to ensure informed consent and appropriate risk stratification.
- Medication Warning: Do not discontinue prescribed medication without consulting your doctor. Genetic results must be interpreted alongside clinical history and current therapies.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Individuals unable to provide informed consent; minors without legal guardian consent (in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency: Rapidly progressive muscle weakness, respiratory difficulty, or loss of ambulation โ seek immediate medical attention; do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the PMP22 CMT1E NGS test and why is it ordered?
The PMP22 CMT1E NGS test sequences the entire coding region of the PMP22 gene to detect point mutations responsible for Charcot-Marie-Tooth neuropathy type 1E. It is ordered when clinical symptoms such as progressive distal weakness, sensory loss, and pes cavus suggest hereditary motor and sensory neuropathy, and when initial MLPA testing for duplication/deletion is negative.
2. How is the sample collected and what is the turnaround time?
A simple blood draw (whole blood in EDTA tube) is performed by a DHA-licensed phlebotomist at your home or in our clinic. Alternatively, extracted DNA or FTA card specimens are accepted. Results are typically ready within 3โ4 weeks after the sample reaches the laboratory.
3. Does insurance cover this genetic test in the UAE?
Insurance coverage varies by policy. Our team handles direct billing verification with most major UAE insurers. Send your insurance details via WhatsApp at +971 54 548 8731 for an immediate coverage assessment.
4. Can the test be performed on family members who are asymptomatic?
Yes, presymptomatic testing is available for adult family members after confirmed genetic diagnosis in an affected relative. Pre-test genetic counselling is mandatory to discuss implications, risks, and benefits.
UAE Regulatory & Data Privacy Adherence
This diagnostic test and all associated data handling are fully compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensuring your genetic data is processed lawfully, transparently, and with explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing secure electronic health records and clinical data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ providing the legal framework for clinical practice and patient safety.
All laboratory processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | PMP22 Gene CMT1E NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card specimen |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full coding region analysis |
| ICD-10-CM Code | G60.0 (Hereditary motor and sensory neuropathy) |
| LOINC Code | 52765-0 (PMP22 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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