Test Price
2,800 AED✅ Home Collection Available
GJB2 Gene Keratoderma, Palmoplantar, with Deafness Genetic Test in UAE | 2800 AED | ISO Accredited NGS
Executive Summary & Core Metrics
Accuracy Guarantee
99.9% diagnostic sensitivity via ISO 15189 accredited next-generation sequencing (NGS) processing.
Premium Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Guidance
Telephonic post-test consultation with a consultant medical geneticist for personalized result interpretation.
Insurance Verification
Direct billing confirmation via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GJB2 gene (Connexin 26) NGS test identifies pathogenic variants causing Palmoplantar Keratoderma with Deafness (PPK-D), a rare autosomal dominant syndrome. Our assay delivers comprehensive sequencing of the entire coding region with deep read depth, enabling precise molecular diagnosis and informed clinical management for affected families in the UAE. Prior to testing, a detailed clinical history, genetic counseling session, and family pedigree chart are required to ensure accurate interpretation.
| Feature | Our Test (GJB2 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity; full gene coverage with deep read depth | ~98%; limited to targeted regions, may miss large deletions |
| Methodology | Next Generation Sequencing (NGS) with advanced bioinformatics | Conventional Sanger sequencing of selected exons |
| Turnaround Time | 3—4 Weeks | 4—6 Weeks |
Physician Insight & Safety Protocols
“As a genetics professional, I recognize the profound implications of a dual sensory and cutaneous diagnosis. This NGS test provides the molecular clarity needed to personalize treatment and guide family planning. However, results must always be interpreted within the full clinical picture, including audiometric and dermatologic assessments. Please continue any prescribed therapies, especially hearing aids or retinoids, unless your specialist advises otherwise.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions
Medication Continuity
Do not discontinue any prescribed dermatologic or auditory treatments without consulting your specialist. Abrupt cessation may worsen symptoms or lead to complications.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inadequate sample volume, active systemic infection, lack of clinical history, or refusal of genetic counseling session.
- Red Flags: Sudden worsening of hearing loss, severe blistering or erosive skin lesions, signs of secondary infection, or acute neurological symptoms—seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the GJB2 gene and its link to palmoplantar keratoderma with deafness?
The GJB2 gene provides instructions for making connexin 26, a protein essential for skin and inner ear function. Mutations in this gene cause a syndromic combination of thickened palms and soles along with sensorineural hearing loss, known as Palmoplantar Keratoderma with Deafness (PPK-D).
2. Who should consider this genetic test?
Individuals with clinical features of keratoderma and deafness, a family history of the syndrome, or those planning a pregnancy with known risk should pursue testing after genetic counseling.
3. How is the test performed and what should I expect?
A simple blood draw collected at home by a certified phlebotomist (VIP Mobile Phlebotomy) is processed using NGS. Results are available in 3—4 weeks and a telephonic consultation with a consultant medical geneticist is included.
4. Are there any dietary or medication restrictions before the test?
No specific restrictions are needed for a blood-based genetic test. Continue all prescribed medications unless your specialist advises otherwise. Inform the phlebotomist of any anticoagulant therapy.
UAE Regulatory & Data Privacy Adherence
All genetic testing and data handling at DNA Labs UAE strictly comply 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. Patient genomic data is encrypted, stored in UAE-based servers, and never shared without explicit consent. The laboratory is DHA-licensed and ISO 15189 accredited, ensuring the highest standards of quality and confidentiality.
Clinical & Logistical Metadata
| Test Name | GJB2 Gene (Connexin 26) NGS Sequencing – Palmoplantar Keratoderma with Deafness |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) or extracted DNA. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) – Whole gene coding region coverage with deep read depth |
| ICD-10-CM Code | Q82.8 (Other specified congenital malformations of skin), H90.5 (Sensorineural hearing loss, unspecified) |
| LOINC Code | 21657-2 (GJB2 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians