Test Price
2,800 AEDโ Home Collection Available
GJB1 Gene (Dejerine-Sottas Disease) Next-Generation Sequencing Genetic Test in UAE
Executive Summary & Core Metrics
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing
- โ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation
- โ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This next-generation sequencing test analyses the entire coding region of the GJB1 gene to identify pathogenic variants causing Dejerine-Sottas disease, a severe early-onset hereditary peripheral neuropathy. Early molecular confirmation enables personalised neurological care and informed family decisions.
| Feature | Our Test (DHA-Licensed) | Closest Alternative (External Panel) |
|---|---|---|
| Methodology | NGS full gene sequencing | Targeted mutation analysis / limited panel |
| Sensitivity | 99.9% (including deep intronic variants) | ~85% (misses novel/rare variants) |
| Turnaround | 4 โ 5 weeks | 6 โ 8 weeks |
| Regulatory | DHA / MOHAP compliant, ISO 9001:2015 | Variable |
Physician Insight & Safety Protocols
From Lina Osama Zaki Quteineh โ Consultant Medical Genetics (DHA: 9294403): โGenetic testing for Dejerine-Sottas disease provides clarity in a condition often mistaken for other neuromuscular disorders. Our results integrate comprehensive clinical correlation so that each family receives a roadmap โ not just a raw data dump. You are not alone in this journey; our multidisciplinary team supports you from sample collection to interpretation.โ
Important Clinical Advisory
โ ๏ธ Medication Warning:
Do not discontinue prescribed medication without consulting your doctor. Genetic test results should always be discussed with your treating neurologist before any change in therapy.
Safety Exclusion Criteria & ER Red Flags
Home Collection Exclusion:
- Uncontrolled bleeding disorder or therapeutic anticoagulation
- Active severe skin infection at puncture site
- Acute febrile illness > 38.5ยฐC
- Patient unable to provide informed consent (for minors, guardian consent required under UAE law)
Seek Emergency Care if:
- Sudden worsening of limb weakness or gait instability
- Respiratory difficulty or chest infection symptoms
- Severe, unexplained pain or autonomic dysfunction
- Loss of consciousness
Patient FAQ & Clinical Guidance
1. What is the GJB1 gene and how does it relate to Dejerine-Sottas disease?
Key Insight: A GJB1 gene mutation leads to connexin 32 deficiency, disrupting myelin in peripheral nerves and causing progressive neuropathy. This test identifies disease-causing variants, enabling definitive diagnosis and differentiation from other Charcot-Marie-Tooth subtypes.
2. How accurate is this NGS test for Dejerine-Sottas disease compared to older methods?
Key Insight: With 99.9% analytical sensitivity, our NGS approach detects >99% of known GJB1 mutations and many deep intronic variants missed by single-gene Sanger sequencing. A negative result therefore significantly reduces the likelihood of GJB1-related disease, narrowing the diagnostic path.
3. What do I need to do before the blood draw and will insurance cover the cost?
Key Insight: A genetic counselling session to draw a detailed pedigree is highly recommended prior to testing; this forms part of our pre-service. Most UAE insurers cover medically necessary carrier/pre-symptomatic testing for hereditary neuropathies โ our team verifies your policy via WhatsApp before collection.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
This service operates 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. All genetic data is encrypted, access-controlled, and processed exclusively within the UAE. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations are certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | GJB1 Gene (Dejerine-Sottas Disease) Next-Generation Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 4 โ 5 weeks |
| Sample Type / Matrix | Peripheral whole blood (3-5 mL in EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) โ full gene coding region + flanking intronic regions |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 81523-0 |
| DHA Facility License & Laboratory Address | License No. 1143 ยท Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE ยท DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
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HIPAA
All reports reviewed by DHA-Certified physicians