Test Price
2,800 AED✅ Home Collection Available
CDSN Gene Sequencing for Peeling Skin Syndrome Type 1 – NGS Genetic Test
Executive Summary & Core Metrics
Executive Summary: This CDSN gene NGS test achieves 99.9% diagnostic sensitivity via ISO 9001:2015-accredited processing at DNA Labs UAE. Your package includes VIP mobile phlebotomy with temperature-controlled cold-chain home collection, direct insurance billing verification, and telephonic post-test clinical guidance by a DHA-licensed Consultant Medical Genetics specialist. The test provides comprehensive sequencing of all exons and exon-intron boundaries for definitive molecular diagnosis of Peeling Skin Syndrome Type 1.
Core Metrics: Test Price: 2,800 AED | Turnaround Time: 3–4 Weeks | Methodology: Next Generation Sequencing (Full Gene) | Sample Types: Whole Blood, Extracted DNA, FTA Card | DHA Facility License: 1143
Test Overview & Methodology
The CDSN gene (corneodesmosin) encodes a protein essential for keratinocyte adhesion in the epidermis. Pathogenic mutations cause superficial skin peeling that may involve the entire body, characteristic of Peeling Skin Syndrome Type 1. Our comprehensive NGS test sequences all coding exons and flanking intronic regions, enabling near-complete mutation detection including point mutations, insertions, deletions, splice-site variants, and copy number variations.
| Feature | Our CDSN NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next Generation Sequencing (Full Gene) | Targeted Sanger (Selected Exons) |
| Mutation Detection | Point mutations, indels, splice variants, CNVs | Only specific point mutations in tested exons |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Types | Whole Blood, Extracted DNA, FTA Card | Blood only |
| Cost | 2,800 AED | ~2,000 AED (limited coverage) |
Physician Insight & Safety Protocols
“A definitive molecular diagnosis of Peeling Skin Syndrome Type 1 provides patients and families with precise genetic counseling, recurrence risk assessment, and a clear foundation for long-term dermatological surveillance. I recommend correlating NGS findings with clinical phenotype and family pedigree before concluding management changes. This test complements but does not replace a thorough specialist evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Guidance
Important Medication Alert
Do not discontinue or adjust any prescribed medication, topical treatment, or skincare regimen before consulting your physician. Genetic test results must be interpreted alongside your current therapy and clinical history. A follow-up teleconsultation with our genetics specialist is included to guide safe integration of results.
Safety Exclusion Criteria & Red Flags
- Active skin infection at the intended phlebotomy site — postpone collection until resolved.
- Known bleeding disorder or current anticoagulant therapy without prior physician clearance.
- Inability to provide informed consent — for minors, a legal guardian must consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Sudden fever accompanied by widespread skin peeling or blistering, or signs of secondary infection (purulent discharge, spreading erythema). In such cases, seek immediate medical attention. This genetic test is elective and not intended for acute crisis evaluation.
Patient FAQ & Clinical Guidance
1. What is Peeling Skin Syndrome Type 1 and how is it diagnosed?
Answer: Peeling Skin Syndrome Type 1 is a rare, lifelong genetic disorder characterized by continuous superficial skin peeling due to mutations in the CDSN gene. Definitive diagnosis is achieved through comprehensive NGS genetic testing of whole blood, extracted DNA, or FTA card samples. This test identifies the specific pathogenic variant responsible, enabling accurate genetic counseling and family screening.
2. Why choose this NGS test instead of older sequencing methods?
Answer: Full-gene NGS analysis detects all mutation types — including rare splice-site alterations, copy number variations, and deep intronic variants — that targeted Sanger sequencing often misses. This provides a conclusive genetic diagnosis in a single assay, reduces the need for repeat testing, and delivers results 1–2 weeks faster than conventional Sanger workflows.
3. What is the cost, turnaround time, and what does the service include?
Answer: The test price is 2,800 AED with results available in 3–4 weeks. Your fee includes pre-test genetic counselling, VIP home phlebotomy with temperature-controlled cold-chain logistics, comprehensive NGS sequencing and bioinformatics analysis, and a post-result teleconsultation with our Consultant Medical Genetics specialist to review findings and recommendations.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: This test is performed 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-restricted, and processed solely for diagnostic purposes with your explicit written consent. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA-licensed facility (License No. 1143) and maintains ISO 9001:2015 certification for quality management in laboratory testing.
Clinical & Logistical Metadata
| Test Name | CDSN Gene Sequencing for Peeling Skin Syndrome Type 1 – NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Analysis |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 94229-4 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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