Test Price
2,800 AED✅ Home Collection Available
GJB3 Gene Erythrokeratodermia Variabilis et Progressiva Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing.
- Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
- Clinical Guidance: Telephonic post-test counselling with a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Turnaround Time: 21–28 calendar days from sample receipt at our Dubai Healthcare City laboratory.
- Methodology: Next-Generation Sequencing (Illumina platform) with full coding region and splice-site coverage.
- Specimen Options: Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card.
- Price: 2,800 AED (inclusive of GST, genetic counselling, and courier within Dubai).
Test Overview & Methodology
This Next-Generation Sequencing (NGS) based genetic test analyses the entire coding region and intron-exon boundaries of the GJB3 gene to detect pathogenic variants causing Erythrokeratodermia Variabilis et Progressiva (EKVP). EKVP is a rare autosomal dominant genodermatosis characterised by transient or fixed erythematous patches and hyperkeratotic plaques. Definitive molecular diagnosis enables precise genetic counselling, targeted management, and family cascade screening. The assay achieves >99.9% analytical sensitivity for single-nucleotide variants and small indels across all coding exons.
| Feature | Our GJB3 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity, full-gene coverage | Targeted hotspot only; misses rare variants |
| Methodology | NGS (Illumina platform), bioinformatic analysis with ACMG variant classification | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
| Variant Detection Spectrum | SNVs, indels, splice-site variants across all coding exons | Only known hotspot exons |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403): “This NGS assay provides a definitive molecular diagnosis for Erythrokeratodermia Variabilis et Progressiva, enabling precise genetic counselling and targeted management. A negative result does not entirely exclude the condition; clinical correlation with dermatological findings and family pedigree remains essential. I strongly recommend both pre- and post-test genetic counselling to ensure patients fully understand the implications of their results, including recurrence risks and cascade screening for at-risk relatives.”
Advisory – Medication and Clinical Context
Do not discontinue prescribed medication without consulting your treating physician. Laboratory results should always be evaluated alongside a thorough clinical examination and dermatological assessment.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria – Do Not Proceed with Home Collection If:
- Active, untreated systemic infection or fever.
- Severe haemodynamic instability or acute illness.
- Inability to provide informed consent (guardian required for minors).
- Current use of anticoagulants without physician approval for blood draw.
Red Flags – Seek Emergency Care Immediately (Dial 998):
- Rapidly progressing, painful, blistering skin lesions.
- Signs of secondary bacterial infection (fever, pus, spreading erythema).
- Sudden visual or neurological changes.
- Any life-threatening allergic reaction (angioedema, anaphylaxis).
This test is not intended for emergency diagnosis. For minors, all communication and consent must comply with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability. All personal health data is protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
Patient FAQ & Clinical Guidance
1. What is the GJB3 NGS test and why might my dermatologist order it?
This high-precision DNA test detects pathogenic variants in the GJB3 gene causing Erythrokeratodermia Variabilis et Progressiva, offering definitive diagnosis and guiding targeted therapy. Your dermatologist may order this test if you present with symmetrically distributed, transient or fixed hyperkeratotic plaques and erythematous patches, especially when a family history suggests autosomal dominant inheritance. A molecular confirmation distinguishes EKVP from other inherited ichthyoses and guides personalised management including topical retinoids and emollients.
2. How is the sample collected and what are the pre-test requirements?
Sample options include a simple whole blood draw (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. A mandatory pre-test genetic counselling session is required to draw a detailed three-generation pedigree and obtain informed consent. Our trained phlebotomist will visit your home between 8 AM and 11 PM using hospital-grade cold-chain logistics. You should provide any previous genetic testing reports and a complete family history during the counselling session to enable accurate variant interpretation.
3. What do abnormal results mean and what is the next step?
A pathogenic GJB3 variant confirms the diagnosis of EKVP, enabling precise genetic counselling, family cascade screening, and personalised management. Abnormal results will be explained in detail during a telephonic consultation with a DHA-licensed consultant medical geneticist. You will receive a comprehensive report including variant classification per ACMG guidelines and specific recommendations for at-risk family members. Follow-up with your treating dermatologist is essential—never self-manage based on a laboratory report alone.
UAE Regulatory & Data Privacy Adherence
Your health data is protected under the following UAE federal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating electronic health records and telemedicine practices.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring informed consent and patient safety standards during all clinical procedures.
All genetic data is handled with strict confidentiality and is not shared with third parties without explicit patient consent. DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | GJB3 Gene Full Sequencing – Erythrokeratodermia Variabilis et Progressiva |
| Price (AED) | 2,800 AED (inclusive of GST, genetic counselling, and courier within Dubai) |
| Turnaround Time | 21–28 calendar days from sample receipt at laboratory |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with full coding region and splice-site analysis; variant classification per ACMG guidelines |
| ICD-10-CM Code | Q80.8 |
| LOINC Code | 95209-3 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
Lab Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | DHA Facility License No. 1143
Important: Clinical history and pre-test genetic counselling are mandatory to draw a pedigree chart. Sample types accepted: whole blood (EDTA), extracted DNA, or one drop of blood on FTA card. Turnaround: 3–4 weeks. Home collection available daily 8 AM – 11 PM.
For appointment or insurance verification: WhatsApp +971 54 548 8731
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All reports reviewed by DHA-Certified physicians