Test Price
2,800 AEDโ Home Collection Available
GJB4 Gene Erythrokeratodermia Variabilis et Progressiva (EKVP) Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for coding and splice-site variants via Next-Generation Sequencing (NGS) under ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Stewardship: Post-test telephonic result interpretation by DHA-licensed genetics specialists.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyses the full coding region and flanking intronic sequences of the GJB4 gene to identify pathogenic variants responsible for Erythrokeratodermia Variabilis et Progressiva (EKVP), a rare autosomal dominant genodermatosis. The assay provides molecular confirmation for suspected clinical cases, enabling precise genetic counselling and targeted management strategies.
| Feature | Our Test (NGS GJB4) | Closest Alternative (Sanger Single-Gene) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for coding & splice-site variants | ~95% sensitivity, may miss deep intronic variants |
| Methodology | Next-Generation Sequencing (NGS) | Sanger Sequencing |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Coverage | Full gene + flanking intronic regions | Selected exons only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) states: This NGS-based test provides a definitive molecular diagnosis for Erythrokeratodermia Variabilis et Progressiva. Positive findings clarify the clinical trajectory and facilitate informed genetic counselling for at-risk family members. A negative result does not exclude all genetic dermatoses, so comprehensive clinical correlation remains essential.
Clinical Advisory
Medication Warning
Do not discontinue any prescribed medication without consulting your treating physician. Genetic test results do not replace medical guidance regarding ongoing therapies.
Exclusion Criteria & Emergency Red Flags
- Active systemic infection or febrile illness (postpone collection until resolved).
- Known severe bleeding disorder (e.g., haemophilia) requiring physician clearance before collection.
- Acute dermatological flare with widespread blistering (risk of secondary infection).
- Emergency Red Flags: Sudden vision changes, hearing loss, or new neurological symptoms in a patient with suspected EKVP โ seek immediate emergency care; do not await test results.
Patient FAQ & Clinical Guidance
1. Who are the most relevant specialists for this test?
Snippet: A dermatologist, clinical geneticist, and genetic counsellor form the core clinical team for interpreting GJB4 gene results and managing EKVP.
These specialists collaborate to diagnose the condition, provide risk assessment for family members, and develop a personalised care plan. Prenatal testing may require additional maternal-fetal medicine input.
2. How should I prepare for the blood draw?
Snippet: No fasting is required; simply attend with your clinical history and a completed pedigree chart from your genetic counselling session.
Our home collection team uses a paediatric-friendly, one-drop blood FTA card if whole blood venipuncture is challenging. Continue all regular medications unless instructed otherwise by your doctor.
3. Is the test suitable for children?
Snippet: Yes, the test can be performed in children with parental consent according to UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
Our team uses pain-free FTA card technology for capillary blood collection. All genetic data is handled with strict confidentiality and in full compliance with local data protection regulations.
UAE Regulatory & Data Privacy Adherence
This test and its data processing operations are fully compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensuring secure handling of genetic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ safeguarding electronic health records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ governing clinical testing safety and patient consent protocols.
Clinical & Logistical Metadata
| Test Name | GJB4 Gene Erythrokeratodermia Variabilis et Progressiva (EKVP) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q82.8, Z84.89, Z13.79 |
| LOINC Code | 82941-3 |
| DHA Facility License & Address | DHA Facility License: 1143 ยท Locations: DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians