Test Price
2,800 AED✅ Home Collection Available
PMP22 Gene CMT1A Genetic Test in the UAE | 2,800 AED | DHA Licensed Genetics Lab
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity and specificity for PMP22 copy number variants via ISO 9001:2015 certified processing (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 across all Emirates.
- Clinical Oversight: Post-test telephonic guidance and result interpretation provided by a DHA-licensed Consultant Medical Genetics specialist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED inclusive of genetic counselling support.
Test Overview & Methodology
This advanced molecular assay uses next-generation sequencing (NGS) to detect duplications and deletions of the PMP22 gene, the primary genetic cause of Charcot-Marie-Tooth disease type 1A (CMT1A). The test provides definitive molecular diagnosis for individuals presenting with clinical features of hereditary peripheral neuropathy, enabling accurate genetic counselling and informed family planning.
| Feature | Our NGS Panel | MLPA-Only Approach |
|---|---|---|
| Precision | 99.9 % sensitivity and specificity for PMP22 copy number variants, including breakpoint resolution | ~98 % sensitivity; may miss atypical duplications or structural rearrangements |
| Methodology | Next‑Generation Sequencing with full gene coverage and bioinformatic CNV calling | Multiplex Ligation‑dependent Probe Amplification using targeted probe sets |
| Turnaround Time | 3 to 4 weeks | 2 to 3 weeks, often requiring reflex NGS for indeterminate results |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I confirm that NGS-based detection of PMP22 duplications and deletions represents the gold-standard molecular confirmation for CMT1A. This test empowers precise genetic counselling and informed reproductive planning. However, results must always be correlated with clinical phenotype, family history, and electromyographic findings for an accurate diagnosis.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Reg. ID: 9294403
Advisory Notice – Medication and Clinical Context
Important: Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test provides diagnostic information and does not independently initiate, modify, or replace any therapeutic regimen.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic individuals without a suggestive family history should not proceed without prior genetic counselling and documented informed consent.
- Exclusion: Patients with severe uncontrolled coagulopathy or other contraindications to venipuncture — alternative collection via FTA card may be arranged after clinical review.
- Red Flag: Sudden onset of severe limb weakness, slurred speech, or vision loss requires immediate emergency medical attention as these may indicate an acute neurological event unrelated to CMT.
- Red Flag: Rapidly progressive neuropathy evolving over days to weeks warrants urgent in-person neurological evaluation rather than standalone genetic testing.
Patient FAQ & Clinical Guidance
1. What does the PMP22 CMT1A NGS test detect?
This test identifies duplications or deletions of the PMP22 gene, the primary molecular cause of Charcot-Marie-Tooth disease type 1A, a hereditary peripheral neuropathy. The result confirms or excludes the diagnosis at the DNA level.
2. How accurate is this test compared to older methods?
Our NGS-based assay delivers over 99.9 % sensitivity and specificity for PMP22 copy number variants, validated under ISO 9001:2015 quality management standards. This exceeds the diagnostic yield of MLPA-only approaches, which may miss atypical rearrangements.
3. Is a doctor referral required in the UAE?
Yes, a referral from a DHA-licensed neurologist or clinical geneticist is mandatory. We provide complimentary telephonic pre- and post-test genetic counselling to ensure compliance with UAE healthcare regulations and informed decision-making.
4. What sample type is needed and how is it collected?
A standard peripheral whole blood sample is required. Collection is performed via VIP mobile phlebotomy at your home or office between 8 AM and 11 PM, or at any of our partner clinics across the UAE.
UAE Regulatory & Data Privacy Adherence
Legal and Compliance Framework
- Data Protection: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genomic data handling, storage, and sharing.
- Health Information Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure digital health records and tele-counselling.
- Medical Liability & Consent: Operates under Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent processes and clinical accountability.
- Quality Certification: ISO 9001:2015 certified facility — Cert. No. INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | PMP22 Gene CMT1A Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (VIP mobile phlebotomy or clinic collection) |
| Methodology Used | Next-Generation Sequencing (NGS) with bioinformatic CNV calling |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 81252-9 |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
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