Test Price
2,800 AED✅ Home Collection Available
PTCH1 Gene (Gorlin Syndrome) Genetic Test in Dubai, UAE – Accurate Molecular Diagnosis
Executive Summary & Core Metrics
Executive Summary
This comprehensive PTCH1 gene test employs next‑generation sequencing (NGS) to detect germline mutations associated with Gorlin syndrome (Basal Cell Nevus Syndrome), a hereditary cancer predisposition syndrome. The test delivers 99.9% diagnostic sensitivity, enabling early surveillance for basal cell carcinomas, odontogenic keratocysts, and medulloblastoma.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015‑Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Guidance in result interpretation by DHA‑licensed genetic counselors.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PTCH1 gene test uses Illumina‑based next‑generation sequencing (NGS) to analyze the entire coding region, intronic boundaries, and copy number variations (CNVs) of the PTCH1 gene. This comprehensive approach detects point mutations, small insertions/deletions, and large deletions or duplications that confer susceptibility to Gorlin syndrome. Early molecular diagnosis through this test facilitates life‑saving surveillance and informed family screening.
Our Test vs. Closest Alternative
| Feature | Our PTCH1 NGS Test | Hotspot Sanger Sequencing |
|---|---|---|
| Coverage | Full gene (exons + intronic boundaries) + CNV analysis | Selected exons only |
| Technology | Illumina Next‑Generation Sequencing (NGS) | Capillary Sanger |
| Diagnostic Sensitivity | >99.9% | ~95% |
| Turnaround Time | 3‑4 Weeks | 6‑8 Weeks |
| Price (AED) | 2,800 | 3,500 |
Physician Insight & Safety Protocols
A Note from Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA License: 9294403)
“This comprehensive PTCH1 gene analysis provides definitive genetic evidence for Gorlin syndrome. Correlation with clinical findings, family history, and dermatologic evaluation is essential. Our genetic counseling team ensures clear interpretation and compassionate support throughout the diagnostic journey.”
Advisory: Medication & Clinical Management
Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not replace ongoing clinical management or routine health screening.
Safety Alerts & Exclusion Criteria
- Exclusion: Individuals unable to give informed consent in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, or minors without a legal guardian.
- Exclusion: Pregnant women requiring urgent imaging unrelated to this test – genetic counseling should precede sample collection.
- ER Red Flag: If you experience sudden severe headaches, vision changes, rapid skin lesion growth, or facial numbness, seek immediate emergency care; these may indicate complications of Gorlin syndrome such as medulloblastoma.
Patient FAQ & Clinical Guidance
1. What is the PTCH1 gene test used for?
The PTCH1 gene test identifies inherited mutations causing Gorlin syndrome (Basal Cell Nevus Syndrome). The results guide surveillance for basal cell carcinomas, odontogenic keratocysts, and medulloblastoma, and inform family‑member counseling and early intervention.
2. How is the test performed?
A VIP mobile phlebotomist collects a peripheral whole blood or saliva sample at your home (8 AM–11 PM daily) via temperature‑controlled cold‑chain transport. Our ISO‑accredited laboratory performs Illumina NGS targeting the full PTCH1 gene with CNV detection, ensuring 99.9% diagnostic sensitivity.
3. How long until I receive my results?
Results are ready in 3‑4 weeks. Your report includes a complimentary telephonic consultation with a DHA‑licensed genetic counselor to explain the findings and discuss next steps in clinical management.
UAE Regulatory & Data Privacy Adherence
Compliance & Data Protection
This diagnostic service operates under DHA Facility License No. 1143 and strictly adheres to:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring patient data confidentiality and secure processing.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health data.
- ISO 15189:2012 and ISO 9001:2015 accreditation frameworks for clinical laboratory quality and data integrity.
All genetic data is encrypted, stored within secure UAE‑based servers, and accessible only to authorized healthcare professionals involved in your care.
Clinical & Logistical Metadata
| Test Name | PTCH1 Gene (Gorlin Syndrome) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Saliva |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 82901-2 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE · Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians