Test Price
2,800 AED✅ Home Collection Available
PTCH2 Gene (Gorlin Syndrome) Germline Mutation Genetic Test in Dubai | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS 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: Telephonic post-test result interpretation by a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- List Price: 2,800 AED inclusive of NGS gene sequencing, genetic counselling, and courier logistics.
Test Overview & Methodology
This PTCH2 germline test uses Next Generation Sequencing (NGS) to analyze the entire coding region of the PTCH2 gene, establishing a definitive molecular diagnosis of Gorlin syndrome (Basal Cell Nevus Syndrome). The assay identifies single-nucleotide variants, small insertions/deletions, and splice-site alterations across all exons and exon-intron boundaries with >99.9% analytical sensitivity.
Early molecular confirmation enables lifelong skin surveillance, jaw cyst monitoring, and cascade testing of at-risk relatives under UAE genetic counselling frameworks. A negative result does not exclude other hereditary syndromes; multidisciplinary dermatological and oncological follow-up remains recommended.
| Feature | Our Test (NGS – Full Gene Sequencing) | Closest Alternative (Hotspot Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | >99.9% analytical sensitivity for all coding exons & splice sites | ~90% – misses deep intronic & novel variants |
| Methodology | NGS (Illumina platform, average 300× coverage) | Bidirectional Sanger sequencing of selected exons |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks (often batching required) |
| Clinical Utility | Full gene characterization for familial variant detection & risk stratification | Limited to known common mutations; may miss pathogenic variants |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"A positive PTCH2 result confirms a hereditary predisposition to basal cell nevus syndrome, yet clinical correlation with dermatological examination, jaw imaging, and three-generation pedigree analysis is essential for accurate risk stratification. A negative sequencing result does not rule out other genetic syndromes or de novo mosaic mutations; structured genetic counselling and continued multidisciplinary surveillance per DHA guidelines remain the standard of care."
⚠️ Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. This genetic test is an adjunct to ongoing clinical care and does not replace regular oncology or dermatology follow-up appointments.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Minors under 18 years without legal guardian consent. Samples from products of conception, heavily haemolysed or contaminated specimens. Unwillingness to undergo mandatory pre-test genetic counselling as required by DHA licensing conditions.
- Emergency Red Flags – Seek immediate medical attention if: Rapidly enlarging or bleeding basal cell lesions develop; jaw swelling or pain suggestive of odontogenic keratocyst; new-onset visual disturbances; or progressive neurological symptoms emerge. Visit the nearest DHA-accredited emergency department.
Patient FAQ & Clinical Guidance
1. What is PTCH2 gene testing for Gorlin syndrome?
This NGS-based test detects germline mutations in the PTCH2 gene associated with basal cell nevus syndrome, enabling early cancer surveillance and family risk assessment. The assay sequences all exons and exon-intron boundaries to identify pathogenic variants, providing a definitive molecular diagnosis when clinical criteria are ambiguous. Results guide personalised management, including paediatric monitoring and referral to multidisciplinary Gorlin syndrome clinics across the UAE.
2. How long does it take to receive the PTCH2 genetic test result?
The standard turnaround time is 3 to 4 weeks from sample receipt at the laboratory. This duration accommodates full NGS sequencing, bioinformatics analysis, variant classification per ACMG/AMP guidelines, and multidisciplinary review. In rare cases, additional time may be required for orthogonal confirmation of novel variants. The final report is delivered electronically to the referring physician, with a complimentary telephonic result interpretation session available within 48 hours of issuance.
3. Is genetic counselling mandatory before undergoing this test?
Yes, pre-test genetic counselling is mandatory under DHA regulatory guidelines. A 30-minute virtual consultation with a DHA-credentialed genetic counsellor is provided to review the family pedigree, discuss autosomal dominant inheritance patterns, address potential psychosocial and insurance implications, and obtain written informed consent. The session also covers UAE-specific data privacy protections under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
UAE Regulatory & Data Privacy Adherence
This genetic testing service operates under the regulatory oversight of the Dubai Health Authority (DHA), DHA Facility License Number 1143. All patient data handling, storage, and processing comply 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. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Samples are processed in ISO 9001:2015 accredited laboratories with stringent access controls and data encryption.
Clinical & Logistical Metadata
| Test Name | PTCH2 Gene (Gorlin Syndrome) Germline Mutation Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube, 3–5 mL). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina platform, average 300× coverage, full coding exons and splice sites |
| ICD-10-CM Code | Q85.01 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians