Test Price
2,800 AEDโ Home Collection Available
HSPB8 Gene (CMT2L) Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy: 99.9% diagnostic sensitivity via ISO-accredited processing.
- Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic genetic counselling included.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The HSPB8 Gene (CMT2L) Genetic Test analyses the entire coding region of the HSPB8 gene to detect pathogenic variants causing Charcot-Marie-Tooth disease type 2L, a hereditary motor and sensory neuropathy. This advanced next-generation sequencing test provides definitive molecular diagnosis to guide management and genetic counselling.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS with high-depth coverage and bioinformatics validation | Sanger sequencing (limited to specific exons) |
| Diagnostic Sensitivity | 99.9% for coding variants | ~95% (may miss large deletions/duplications) |
| Turnaround Time | 3-4 weeks | 4-6 weeks |
| Added Value | Pedigree counselling, comprehensive report | Basic variant report |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I understand the anxiety surrounding a possible CMT2L diagnosis; this NGS test offers clarity, but results must be interpreted within the full clinical context. Always discuss findings with a qualified healthcare provider who can integrate your personal and family history." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Test Preparation
Do not discontinue any prescribed medication without consulting your doctor. Inform your healthcare provider of all medications and supplements before sample collection.
Exclusion Criteria & Red Flags
- Exclusion Criteria: Patients under 18 years require legal guardian consent per UAE Federal Law No. 2 of 2019; individuals unable to provide informed consent; recent blood transfusion may cause sample ambiguity.
- Emergency Red Flags: If you experience sudden, severe muscle weakness, respiratory difficulty, or cardiac symptoms, seek immediate emergency careโdo not wait for test results.
Pre-test requirement: Genetic counselling session for pedigree chart and informed consent according to DHA regulations.
Patient FAQ & Clinical Guidance
1. What does the HSPB8 NGS test detect and how accurate is it?
The HSPB8 NGS test detects pathogenic variants in the entire HSPB8 gene with 99.9% diagnostic sensitivity for CMT2L neuropathy. Results must be correlated with clinical findings and family history.
2. How long does it take to receive results and what does the process involve?
Results are delivered in 3โ4 weeks after sample collection. Our VIP mobile phlebotomy service collects blood from your home under cold-chain standards, or you may visit our laboratory in Dubai Healthcare City.
3. Is genetic counselling mandatory before the test in UAE?
Yes, UAE DHA guidelines mandate a pre-test genetic counselling session to draw a pedigree chart and obtain informed consent. This ensures accurate interpretation and appropriate clinical follow-up.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test 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 follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | HSPB8 Gene (CMT2L) Next-Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or extracted DNA sample; VIP mobile phlebotomy and cold-chain home collection available |
| Methodology Used | Next-Generation Sequencing (NGS) with high-depth coverage and bioinformatics analysis |
| ICD-10-CM Code | G60.0 (Hereditary motor and sensory neuropathy) |
| LOINC Code | 82622-1 (HSPB8 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DNA Labs UAE โ DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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