Test Price
2,600 AED✅ Home Collection Available
Next-Generation Sequencing Panel for Charcot-Marie-Tooth Disease & Sensory Neuropathies in UAE | 2,600 AED | DNA Labs Dubai
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – Powered by ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139) with stringent quality controls.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM for standard peripheral whole blood specimens.
- Clinical Guidance – Telephonic post-test specialist interpretation from a Consultant Medical Geneticist to ensure actionable clinical correlation with family history and neurological examination.
- Insurance Billing Verification – Direct billing confirmation via WhatsApp: +971 54 548 8731
Test Overview & Methodology
This comprehensive Next-Generation Sequencing (NGS) panel screens for pathogenic variants in over 60 genes associated with Charcot-Marie-Tooth disease (CMT) and hereditary sensory neuropathies, delivering precise molecular diagnosis that informs treatment, prognosis, and family planning. The analysis includes single nucleotide variants, small insertions and deletions, and copy number variations across key genes such as PMP22, MPZ, GJB1, MFN2, and many others. All clinically significant findings are confirmed by Sanger sequencing to ensure near-100% analytic validity in accordance with ACMG classification guidelines.
| Feature | NGS Panel (Our Test) | Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | NGS + Sanger confirmation | Single-gene Sanger sequencing |
| Gene Coverage | >60 CMT and sensory neuropathy genes | 1–2 genes per test |
| Turnaround Time | 40 working days | 8–12 weeks per gene |
| Price | 2,600 AED (all-inclusive) | Variable, often >4,000 AED cumulative |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“As a Consultant Medical Genetics specialist, I emphasise that identifying a pathogenic variant in one of the CMT-associated genes provides a definitive molecular diagnosis, enabling tailored disease management and accurate recurrence risk counselling for families. However, this NGS panel must always be interpreted in the full context of a complete neurological evaluation, electrophysiological studies, and a three-generation family pedigree. Pre-test and post-test genetic counselling are essential to ensure patients fully understand the implications of both positive and uncertain results.”
Important Advisory – Medication & Clinical Context
Do not discontinue, adjust, or initiate any prescribed medication or treatment plan based solely on genetic test results without direct consultation with your treating physician. This diagnostic information is designed to complement, not replace, clinical judgement and ongoing medical care.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Blood transfusion within the past 4 weeks, active haemolysis, incomplete or unsigned consent documentation, or sample compromised by haemolysis or freezing.
- Emergency Red Flags – Seek Immediate Medical Attention: Acute or rapidly progressive muscle weakness; sudden loss of sensation leading to recurrent falls; new-onset difficulty breathing or swallowing; abrupt vision loss.
This test is not a substitute for urgent clinical evaluation. If you experience any of the above symptoms, contact your neurologist or proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What conditions and genes does this NGS panel cover?
This panel sequences over 60 genes associated with Charcot-Marie-Tooth disease (all subtypes), hereditary sensory neuropathies, and related hereditary motor neuropathies. It detects pathogenic single nucleotide variants, small insertions and deletions, and copy number alterations across the complete coding regions and splice sites. Key genes include PMP22, MPZ, GJB1, MFN2, GDAP1, HSPB1, SH3TC2 and many others. Results are classified using the ACMG/AMP 2015 guidelines, and all reportable variants are confirmed by orthogonal Sanger sequencing.
2. How is the blood sample collected and what are the pre-test requirements?
A standard peripheral whole blood sample of 10 mL is collected in two EDTA tubes by our trained phlebotomist during a home visit or at our Dubai Healthcare City facility. The sample must be refrigerated immediately at 2–8°C and transported under temperature-controlled cold chain logistics. A signed Whole Exome Sequencing Consent Form (Form 37) is mandatory, covering genetic data usage and privacy rights under UAE PDPL. No fasting is required, but please inform the phlebotomist of all current medications, supplements, and any history of blood transfusion within the past 4 weeks.
3. When will I receive my results and how are they interpreted?
Results are delivered within 40 working days from sample receipt, followed by a telephonic interpretation session with our Consultant Medical Geneticist. The comprehensive clinical report details each identified variant, its classification (pathogenic, likely pathogenic, variant of uncertain significance, benign), zygosity, and clinical relevance. Our genetics team provides a 15-minute guidance call to explain the findings in plain language, discuss natural history and management options, and offer referrals for genetic counselling and family cascade screening where appropriate.
4. Can this test be performed on an archival tissue sample instead of blood?
Yes, with prior approval, the panel can be performed on genomic DNA extracted from a stored tissue specimen. If a previous biopsy or surgical pathology block is available, please contact our laboratory at +971 54 548 8731 to arrange Secure Medical Courier Solid Tissue Specimen Retrieval. Turnaround time may extend to 50 working days for archival samples due to additional DNA extraction and quality control steps. Note that home phlebotomy is not applicable for tissue specimens.
5. What are the limitations of this NGS panel?
This panel does not detect large structural rearrangements, deep intronic variants beyond canonical splice sites, or epigenetic changes. It also cannot rule out all possible genetic causes of neuropathy, as some genes may not be included. A negative result does not exclude a genetic aetiology. In such cases, whole exome sequencing or whole genome sequencing may be considered as a follow-up test. All results should be interpreted in the context of clinical findings, family history, and electrophysiological data.
UAE Regulatory & Data Privacy Adherence
This diagnostic service and all associated data handling procedures operate in full compliance with 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 protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs Dubai is a DHA-licensed facility (Licence No. 1143) operating under ISO 9001:2015 quality management standards (Cert: INT/EGQ/2509DA/3139). All genetic data is encrypted, stored within UAE servers, and accessible only to authorised clinical personnel with explicit patient consent.
Clinical & Logistical Metadata
| Test Name | Next-Generation Sequencing Panel for Charcot-Marie-Tooth Disease & Sensory Neuropathies |
| Price (AED) | 2,600 AED |
| Turnaround Time | 40 working days from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (10 mL in two EDTA tubes); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation of all reportable variants |
| ICD-10-CM Code | G60.0 (Hereditary motor and sensory neuropathy) |
| LOINC Code | 101123-3 (Neurology hereditary neuropathy panel DNA sequencing panel) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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