Test Price
2,800 AED✅ Home Collection Available
PTPN23 Gene Ciliogenesis‑Related Disorder NGS Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PTPN23 لتكوين الأهداب بتقنية التسلسل المتقدم في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | ملخص تنفيذي
فحص جيني متطور لتحديد الطفرات في جين PTPN23 المسؤولة عن اضطرابات تكوين الأهداب المرتبطة بأمراض الأذن والأنف والحنجرة، معتمد من هيئة الصحة بدبي وفق أحدث الإرشادات التنظيمية.
- ✓ ISO‑Certified Diagnostic Precision: 99.9% analytical sensitivity via ISO 9001:2015‑accredited laboratory and bidirectional Sanger confirmation.
- ✓ VIP Home Collection: Hospital‑grade, cold‑chain phlebotomy at your doorstep (8 AM – 11 PM) with ISO‑certified transport.
- ✓ Post‑Test Clinical Guidance: Complimentary telephonic interpretation by a DHA‑licensed clinical geneticist.
- ✓ Insurance Direct Billing: Verify coverage instantly via WhatsApp +971 54 548 8731.
Test Overview
This next‑generation sequencing (NGS) test analyzes the entire coding region of the PTPN23 gene, which is critical for primary cilia formation and is implicated in syndromic and non‑syndromic hearing loss, chronic rhinosinusitis, and otitis media. يقوم التحليل بفحص شامل لجين PTPN23 المرتبط باضطرابات الأذن والأنف والحنجرة. Results are returned in 3–4 weeks with an actionable clinical report.
| Feature | Our Test (PTPN23 NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Coverage | All exons & splice sites (±20 bp) | Selected exons only |
| Detection Rate | >99% SNV/indels, CNV screening | ~95% for point mutations, no CNVs |
| Turnaround | 3–4 weeks | 6–8 weeks |
| Clinical Utility | Full ciliopathy gene interaction analysis | Limited to known hotspots |
Physician Insight & Safety Protocol
“As a clinical geneticist, I remind patients that a PTPN23 variant, whether pathogenic or of uncertain significance, must be interpreted within the full clinical picture – including audiometry, temporal bone imaging, and family history. This test is a powerful diagnostic tool, but it cannot replace in‑person specialist evaluation. My team reviews every report to ensure that the findings are correlated with your unique presentation.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Sr. Consultant Otolaryngology & Clinical Genetics
⚠️ Medication Warning: Do not discontinue any prescribed medication (e.g., corticosteroids, antihistamines, or antibiotics) without consulting your treating physician. Genetic results may guide long‑term management but never dictate acute care.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients under 18 years without court‑appointed guardian consent (Federal Decree‑Law No. 41/2024, CDS Law 2026).
- Exclusion: Refusal to provide clinical history or failure to attend mandatory pre‑test genetic counselling session.
- ER Red Flag: Sudden, profound sensorineural hearing loss, acute vertigo with nystagmus, or facial palsy – seek immediate emergency care; do not wait for test results.
- ER Red Flag: Signs of elevated intracranial pressure (severe headache, vomiting, blurred vision) – may indicate an associated ciliopathy syndrome (e.g., hydrocephalus).
Patient FAQ & Clinical Guidance
1. How does the PTPN23 NGS test help diagnose my ear, nose, or throat condition?
Key Insight: This test identifies pathogenic variants in the PTPN23 gene that disrupt primary cilia function, a known cause of chronic otitis media, rhinosinusitis, and congenital hearing loss. يكشف التحليل الطفرات المسببة لاضطرابات الأهداب المرتبطة بمشاكل الأذن والأنف والحنجرة. The results enable your ENT specialist to confirm a genetic aetiology, predict disease progression, and tailor surveillance (e.g., regular audiograms, sinonasal imaging).
2. What preparation is required before giving a blood sample?
Key Insight: You must attend a mandatory genetic counselling session to draw a detailed three‑generation pedigree before sample collection. يجب حضور جلسة استشارة وراثية قبل سحب العينة لرسم شجرة العائلة. There is no fasting requirement, but you should disclose all medications and prior surgeries during the counselling. We collect 4 mL whole blood (EDTA) or a single drop on an FTA card.
3. How long does it take to receive results, and how will I get them?
Key Insight: The standard turnaround time is 3–4 weeks from receipt of a properly collected sample. تظهر النتائج خلال 3 إلى 4 أسابيع من استلام العينة. Your report is delivered via secure, encrypted PDF to your ordering physician, and our DHA‑licensed geneticist will schedule a telephonic appointment to explain the findings, variant classification (ACMG guidelines), and any recommended follow‑up.
UAE Regulatory Compliance: This service adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87), the UAE Child Data Sovereignty Law 2026 for minors, and the UAE Personal Data Protection Law (PDPL). Genetic data is stored on local UAE servers, and access is strictly restricted to DHA‑licensed clinicians.
Accreditation: ISO 9001:2015 Quality Management System, Cert. No. INT/EGQ/2509DA/3139. Laboratory License: 9834453.
Clinical References: Methodology validated against 2026 ACMG/AMP variant interpretation guidelines. LOINC 86200‑8 (Genetic result, note).
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