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Test Price

2,800 AED

โœ… Home Collection Available

COL17A1 Gene Sequencing (NGS) for Junctional Epidermolysis Bullosa โ€“ Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

Next-Generation Sequencing of COL17A1 for Definitive JEB Diagnosis

  • Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8โ€ฏAM โ€“ 11โ€ฏPM).
  • Clinical Guidance: Telephonic post-test genetic counselling and result interpretation by a consultant medical geneticist.
  • Insurance: Direct billing verification via WhatsApp +971โ€ฏ54โ€ฏ548โ€ฏ8731.

Test Overview & Methodology

This comprehensive genetic test sequences the entire COL17A1 gene using Next-Generation Sequencing (NGS) to diagnose junctional epidermolysis bullosa (JEB), a life-threatening inherited skin fragility disorder. Designed for dermatologists, clinical geneticists, and pediatricians, the test confirms the molecular diagnosis, guides wound care and nutritional management, and enables precise family genetic counselling.

Feature Our COL17A1 NGS Test Standard Sanger Sequencing
Technology NGS (Full Gene Coverage) Targeted Mutation Analysis
Diagnostic Sensitivity 99.9% ~85% (limited variants)
Turnaround Time 3โ€“4 Weeks 4โ€“6 Weeks
Price (AED) 2,800 2,000 (approx.)
Accreditation ISOโ€ฏ9001:2015, DHA Licensed Variable

Physician Insight & Safety Protocols

โ€œAs a DHA-licensed Consultant Medical Genetics, I emphasize that this NGS test provides definitive molecular diagnosis for junctional epidermolysis bullosa. However, results must always be interpreted in the context of full clinical evaluation and family history. We strongly recommend pre- and post-test genetic counselling to fully understand the implications. Do not alter any prescribed wound care, nutritional regimen, or medication without consulting your managing physician.โ€
โ€“ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Important Clinical Advisory

Do not discontinue prescribed medications or treatments, including topical antibiotics, pain relievers, or nutritional supplements, without consulting your doctor. Genetic testing does not replace ongoing clinical management.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Individuals without a clinical suspicion of junctional epidermolysis bullosa or a confirmed family history of COL17A1-related disorders; self-testing on asymptomatic minors without a paediatric geneticist referral (per UAE regulations on minorsโ€™ genetic testing).
  • ER Red Flags: Rapidly spreading blisters, signs of sepsis (fever, lethargy), severe oral or oesophageal blistering causing difficulty swallowing or breathing, or acute respiratory distress. Seek immediate emergency care.

Patient FAQ & Clinical Guidance

1. What is the accuracy of the COL17A1 NGS test for diagnosing junctional EB?

Our NGS test achieves 99.9% diagnostic sensitivity by sequencing all coding exons and splice junctions of the COL17A1 gene, providing near-definitive confirmation of pathogenic variants.

2. How long does it take to receive the test result and what does the process involve?

Results are delivered within 3 to 4 weeks, covering DNA extraction, NGS library preparation, bioinformatics analysis, and a comprehensive clinical report by a multidisciplinary team.

3. Is this test covered by health insurance in the UAE, and how can I verify?

Most UAE insurance plans cover genetically indicated diagnostic tests like COL17A1 sequencing when prescribed by a dermatologist or geneticist; direct billing verification is available via WhatsApp at +971545488731 before sample collection.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License No. 1143 and fully complies 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 clinical testing safety and patient consent procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic data is processed with strict confidentiality, encryption, and ethical safeguards.

Clinical & Logistical Metadata

Test Name COL17A1 Gene Sequencing (NGS) for Junctional Epidermolysis Bullosa
Price (AED) 2,800
Turnaround Time 3โ€“4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA)
Methodology Used Next-Generation Sequencing (NGS) โ€“ Full Gene Coverage
ICD-10-CM Code Q81.1
LOINC Code 82160-5
DHA Facility License & Laboratory Address License No. 1143 โ€“ DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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