Test Price
2,800 AED✅ Home Collection Available
PTCH2 Gene (Gorlin Syndrome) Germline Mutation Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل طفرة جين PTCH2 المسبب لمتلازمة الوحمة القاعدية الخلايا (متلازمة جورلين) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & UAE Patient Assurance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy, available 8 AM–11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- ملخص تنفيذي: يوفر هذا التحليل الجيني المتطور أعلى دقة لتشخيص متلازمة جورلين (الورم القاعدي الخلايا) الناتجة عن طفرات جين PTCH2، ملتزمًا بأعلى معايير هيئة الصحة بدبي والخصوصية وفقًا للقانون الاتحادي لحماية البيانات. السعر 2800 درهم مع خدمة سحب منزلي وشرح طبي متكامل.
Overview / نظرة عامة
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). يستخدم هذا الاختبار تسلسل الجيل التالي لتحليل الجين كاملاً لتأكيد متلازمة جورلين الوراثية.
Early identification enables life‑long skin surveillance, jaw cyst monitoring, and cascade testing of at‑risk relatives under UAE genetic counselling laws.
| 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 Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011) – Consultant Oncologist & Clinical Geneticist:
"While a positive PTCH2 result confirms a hereditary cancer predisposition, clinical correlation with skin examinations, jaw imaging, and family history remains paramount. A negative result does not exclude other genetic syndromes or de novo mutations; lifelong dermatological surveillance according to DHA-recommended schedules is still advised. Communicate all results within a structured genetic counselling framework."
⚠️ Medication & Safety Notice
Do not discontinue prescribed medication without consulting your doctor. This genetic test does not replace ongoing oncology or dermatology care.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Minors (<18 years) without legal guardian consent (CDS Law 2026). Samples from products of conception, heavily haemolysed or contaminated specimens. Unwillingness to undergo mandatory pre‑test genetic counselling.
- ER Red Flags – Seek immediate medical attention if: Rapidly enlarging or bleeding basal cell lesions, jaw swelling/pain (possible odontogenic keratocyst), new‑onset visual disturbances, or progressive neurological symptoms. Visit your nearest DHA‑accredited emergency department.
Patient FAQ & Clinical Guidance / الأسئلة الشائعة والتوجيه الطبي
What is PTCH2 gene testing for Gorlin syndrome?
This NGS 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.
كم تستغرق نتيجة تحليل جين PTCH2؟
تستغرق نتيجة التحليل من 3 إلى 4 أسابيع بعد وصول العينة إلى المختبر، حيث يتم إجراء تسلسل كامل للجين بتقنية الجيل التالي لضمان الدقة. تمديد المدة قد يحدث في حالات نادرة بسبب الحاجة لتأكيد الطفرات بطرق مكملة. يُرسل التقرير النهائي إلى الطبيب المعالج مع إمكانية جلسة شرح هاتفية مجانية خلال 48 ساعة من صدوره.
Is a genetic counselling session required before testing?
Yes, pre- genetic counselling is mandatory as per DHA guidelines to review family pedigree, discuss implications, and obtain informed consent. Our service includes a 30‑minute virtual consultation with a DHA‑credentialed genetic counsellor who will explain autosomal dominant inheritance, potential insurance implications, and the spectrum of possible results. The session also addresses psychological impact and UAE‑specific data privacy protections under Federal Decree‑Law No. 45 of 2021 (PDPL).
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians