Test Price
2,800 AED✅ Home Collection Available
PKP1 Gene Ectodermal Dysplasia-Skin Fragility Syndrome Genetic Test in UAE | 2,800 AED | NGS Diagnostics
Executive Summary & Core Metrics
🔬 Accuracy Guarantee:
99.9% diagnostic sensitivity via 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 Guidance:
Post-test telephonic clinical result interpretation with a Consultant Medical Geneticist.
💳 Insurance & Billing:
Direct billing verification via WhatsApp +971 54 548 8731.
Core Metrics: This next-generation sequencing (NGS) test provides definitive molecular diagnosis for PKP1-associated ectodermal dysplasia-skin fragility syndrome. With a turnaround time of 3–4 weeks and comprehensive ACMG-classified reporting, the assay supports targeted dermatologic management, genetic counseling, and familial risk assessment.
Test Overview & Methodology
This next-generation sequencing test screens the entire coding region of the PKP1 gene to identify pathogenic variants responsible for ectodermal dysplasia-skin fragility syndrome (EDSFS), a rare autosomal recessive disorder characterized by fragile skin, palmoplantar keratoderma, and nail dystrophy. Full-gene coverage with 100-bp paired-end reads and advanced bioinformatics pipelines ensures high sensitivity for single-nucleotide variants, small insertions, and deletions.
The test is indicated for individuals with clinical suspicion of EDSFS, inconclusive histopathology, or a family history of the condition. Results are correlated with dermatological examination and, where applicable, skin biopsy findings.
| Feature | Our Test – DNA Labs UAE | Standard Genetic Panel |
|---|---|---|
| Methodology | Full-gene NGS with 100-bp paired-end reads & advanced bioinformatics | Targeted mutation hotspot analysis (limited coverage) |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Price (AED) | 2,800 | 3,500 (whole exome may miss PKP1) |
| Result Interpretation | Physician-ready report with ACMG classification & optional post-test counselling | Basic variant list without clinical correlation |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I want you to understand that a positive PKP1 genetic result confirms the molecular basis of your skin fragility syndrome, enabling precise clinical management and informed family planning. Clinical correlation with dermatological assessment, skin biopsy findings, and family history remains essential. Please consult your referring physician before making any treatment adjustments.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue, alter, or initiate any prescribed dermatological therapy without explicit consultation with your treating physician. Genetic test results are intended to inform clinical management, not to replace direct medical supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active, severe skin infection at the venipuncture site; inability to provide a blood or buccal sample; patient unable to give informed consent. For minors, parental or guardian consent is required per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- E.R. Red Flags: If you experience rapidly spreading blisters, signs of sepsis (fever, chills, severe pain), or extensive skin detachment, seek immediate emergency care. Genetic testing is not a substitute for acute clinical intervention.
Patient FAQ & Clinical Guidance
1. Why should I have the PKP1 gene test?
This test provides a definitive molecular diagnosis of ectodermal dysplasia-skin fragility syndrome, enabling targeted dermatologic care, genetic counseling, and proactive screening for family members at risk. A confirmed genetic diagnosis helps avoid unnecessary treatments and guides long-term surveillance.
2. How is the sample collected for this DNA test?
A peripheral whole blood draw is obtained by our DHA-licensed phlebotomists during a comfortable home visit, using a temperature-controlled cold-chain transport kit to maintain DNA integrity. For infants or young children, a buccal swab may be used as an alternative.
3. What is the turnaround time and what does the report include?
Results are ready within 3 to 4 weeks from sample receipt. The comprehensive report includes variant interpretation according to ACMG guidelines, clinical significance, zygosity, and recommendations for family segregation testing. A telehealth consultation with a Consultant Medical Geneticist is available to discuss results.
4. Will my insurance cover this genetic test?
Coverage varies by insurance provider and policy. We offer direct billing verification via WhatsApp +971 54 548 8731. Pre-authorization may be required; our team assists with documentation to facilitate reimbursement.
5. What genetic counseling is available after the test?
Post-test telephonic clinical result interpretation with a Consultant Medical Geneticist is included. This session addresses the implications of your result for you and your family, recurrence risks, and options for prenatal or preimplantation genetic testing if desired.
UAE Regulatory & Data Privacy Adherence
100% UAE Legal Compliance
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and health data are encrypted and stored within UAE sovereign infrastructure, with strict access controls.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and telemedicine components comply with national health information exchange standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Informed consent, patient safety, and clinical governance procedures align with federal medical liability regulations.
- ISO 9001:2015 Certification: INT/EGQ/2509DA/3139. DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | PKP1 Gene Ectodermal Dysplasia-Skin Fragility Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or buccal swab; cold-chain transport required |
| Methodology Used | Next-Generation Sequencing (NGS), full-gene coverage, 100-bp paired-end reads |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 76978-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians