Test Price
2,800 AEDโ Home Collection Available
PTCH1 Gene Sequencing (Basal Cell Nevus Syndrome) in UAE | AED 2800 | DHA Licensed
Executive Summary & Core Metrics
Clinical Precision Guarantee: 99.9% diagnostic sensitivity through ISO 9001:2015 accredited Next-Generation Sequencing (NGS) with full copy number variation (CNV) analysis. This test targets the PTCH1 gene to confirm or exclude a diagnosis of Gorlin syndrome (basal cell nevus syndrome), enabling early cancer surveillance and informed family planning. Results are interpreted by Consultant Medical Genetics Lina Osama Zaki Quteineh, DHA Registration ID: 9294403.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM, across all Emirates, with real-time sample tracking.
- Complimentary Post-Test Genetic Consultation: Telephonic session with a genetic specialist to explain results and coordinate next steps.
- Direct Billing Support: Insurance verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test analyzes the entire coding region and splice sites of the PTCH1 gene to diagnose basal cell nevus syndrome (Gorlin syndrome) โ an autosomal dominant hereditary disorder characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar/plantar pits, intracranial calcification, and developmental anomalies. Detection of pathogenic or likely pathogenic variants in PTCH1 provides >99.9% clinical sensitivity. The Dubai Health Authority (DHA) licensed service delivers actionable insights for dermatologic, dental, and oncologic surveillance, as well as cascade screening for at-risk relatives.
| Feature | Our PTCH1 NGS Test | Conventional Single-Gene Test |
|---|---|---|
| Methodology | NGS + full deletion/duplication (CNV) analysis | Limited Sanger sequencing, misses large rearrangements |
| Turnaround Time | 3โ4 weeks | 6โ8 weeks |
| Clinical Depth | >99.9% analytic sensitivity, ACMG variant interpretation | ~95% sensitivity, no CNV coverage |
| Sample | Whole blood (4 mL EDTA), extracted DNA, or dried blood spot (FTA card) | Whole blood only |
| Compliance | DHA licensed, ISO 9001:2015 certified | Variable regional standards |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403):
"Every PTCH1 result is more than data โ itโs a roadmap for your familyโs health. We pair advanced NGS with a meticulous pedigree review, ensuring that a positive finding triggers immediate, guideline-directed dermatological and dental surveillance. Please do not make any medical decisions in isolation; our team will help you navigate each step."
Pre-Test Advisory
Important Medical Advisory: Do not discontinue any prescribed medication or supplement without consulting your treating physician. No specific drug avoidance is required for this DNA-based genetic test. A mandatory pre-test genetic counselling session (included in the package) will be conducted via teleconsultation to draw a pedigree chart of family members and discuss implications.
Safety Exclusion Criteria & Emergency Guidelines
Exclusion Criteria & Red Flags
- Exclusion: Patients unable to provide informed consent (minors must have legal guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Exclusion: Samples with insufficient DNA quality or quantity; a recollection will be offered at no extra cost.
- Emergency Red Flag: If you experience sudden vision loss, severe morning headaches, or new-onset seizures, do not wait for the genetic test result โ visit the nearest emergency department immediately.
- Emergency Red Flag: Rapidly growing skin lesions, bleeding, or ulceration should be assessed by a dermatologist urgently.
Patient FAQ & Clinical Guidance
1. What is the PTCH1 gene sequencing test for basal cell nevus syndrome?
This test uses Next-Generation Sequencing to sequence the entire coding region and splice sites of the PTCH1 gene, detecting disease-causing mutations that cause Gorlin syndrome with >99.9% sensitivity. It analyzes DNA from blood or FTA card to identify pathogenic variants linked to multiple basal cell carcinomas, jaw keratocysts, and other tumors. The result guides personalized cancer surveillance for patients and their family members.
2. How accurate is this genetic test for Gorlin syndrome?
Our PTCH1 NGS panel achieves 99.9% analytic sensitivity for single nucleotide variants, small insertions and deletions, and copy number alterations, making it the gold standard for molecular diagnosis. Clinical interpretation follows ACMG guidelines, with thorough bioinformatic filtering to exclude benign polymorphisms. Confirmatory testing for variants of uncertain significance is available if clinically indicated.
3. What sample types are accepted, and how does home collection work in Dubai?
We accept whole blood (4 mL EDTA tube), previously extracted DNA, or a dried blood spot on an FTA card. VIP home collection is available daily from 8 AM to 11 PM. A certified phlebotomist arrives at your location, verifies identity per UAE data protection law, labels the sample with a unique barcode, and transports it under temperature-controlled cold chain to our ISO 9001:2015 accredited laboratory. You receive a WhatsApp notification when the sample reaches the lab.
4. When will I receive my results, and how are they delivered?
Turnaround time is 3โ4 weeks from sample receipt. Results are delivered via secure digital PDF and include a detailed clinical interpretation signed by Consultant Medical Genetics Lina Osama Zaki Quteineh. A complimentary telephonic consultation is scheduled within 48 hours of result release to explain findings and coordinate specialist referrals if needed.
5. Is pre-test genetic counselling mandatory?
Yes. A clinical history and genetic counselling session to construct a pedigree chart of family members affected with PTCH1-related conditions is mandatory before sample collection. This session is included in the package and can be conducted via teleconsultation. It ensures informed consent and appropriate test selection.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Privacy: This laboratory service operates under DHA Facility License Number 1143 and adheres to 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-controlled, and processed exclusively within the UAE. Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and complies with DHA standards for molecular genetic testing.
Clinical & Logistical Metadata
| Test Name | PTCH1 Gene Sequencing (Basal Cell Nevus Syndrome), NGS with CNV Analysis |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card); VIP mobile phlebotomy available |
| Methodology Used | Next-Generation Sequencing (NGS) with full deletion/duplication (CNV) analysis, bioinformatic interpretation per ACMG guidelines |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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