Test Price
2,800 AED✅ Home Collection Available
PMP22 Gene Dejerine-Sottas Disease Genetic Test in Dubai, UAE – 2,800 AED – NGS Sequencing & CNV Analysis
Executive Summary & Core Metrics
Test Overview & Methodology
The PMP22 Gene Dejerine-Sottas Disease Genetic Test employs Next‑Generation Sequencing (NGS) with integrated CNV analysis to detect pathogenic variants in the peripheral myelin protein 22 gene, providing a definitive molecular diagnosis for severe early‑onset hereditary motor and sensory neuropathy (HMSN type III). This test is the gold standard for confirming Dejerine‑Sottas disease and differentiating it from other inherited neuropathies.
| Feature | Our Test (NGS + CNV Analysis) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | ≥99.9% diagnostic sensitivity, detects both SNVs and copy number variations (CNVs) | ~95% for point mutations; misses large duplications/deletions |
| Method | NGS with CNV‑calling bioinformatics, ACMG 2026 compliance | Targeted Sanger sequencing of exonic regions only |
| Speed | 3–4 weeks from sample collection | 6–8 weeks for full gene scan |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that a positive PMP22 genetic result must be correlated with clinical and electrophysiological findings; a negative result does not rule out all hereditary neuropathies. This test is a powerful tool when interpreted alongside a thorough family history and genetic counselling. The emotional and familial impact of unexpected findings should always be discussed with a certified genetic counsellor.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Decisions about treatment — such as physical therapy, orthopedic interventions, or medication — should never rely solely on a genetic report. Always discuss results with your primary physician before making any changes. Genetic testing can reveal unexpected information; we ensure pre‑ and post‑test support to navigate your care journey.
Exclusion & Safety Criteria
- Medication Warning: Do not discontinue any prescribed medication without consulting your treating doctor.
- Exclusion: Individuals incapable of giving informed consent (minors must have guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Exclusion: Active febrile illness or acute decompensation that might compromise sample stability.
- ER Red Flags: If you experience rapidly progressive weakness, respiratory distress, or severe pain, seek emergency care immediately — do not delay for elective testing.
Patient FAQ & Clinical Guidance
1. What is the PMP22 gene Dejerine‑Sottas disease NGS test?
The PMP22 NGS test analyzes the peripheral myelin protein 22 gene for pathogenic variants causing severe early‑onset hereditary motor and sensory neuropathy. It combines high‑coverage sequencing with CNV detection to provide a comprehensive molecular diagnosis.
2. How is the test performed and what sample is required?
A simple blood draw, extracted DNA, or a single drop on an FTA card is all that is needed. DNA is then sequenced using high‑coverage NGS, with results delivered in 3–4 weeks. Home collection is available daily from 8 AM to 11 PM via our VIP Mobile Phlebotomy service.
3. What happens after I receive my results?
You will receive a detailed clinical report and a scheduled telephonic consultation with the Consultant Medical Geneticist to interpret the genetic findings, discuss implications, and plan next steps. Pre‑ and post‑test genetic counselling is provided to support your care journey.
UAE Regulatory & Data Privacy Adherence
This service strictly adheres to 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is encrypted and handled with full patient confidentiality. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | PMP22 Gene Dejerine-Sottas Disease Genetic Test (NGS + CNV Analysis) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample collection |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV‑calling bioinformatics, ACMG 2026 guidelines |
| ICD-10-CM Code | G60.0, Z13.71, Z84.8 |
| LOINC Code | 81246-0 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians