Test Price
2,800 AED✅ Home Collection Available
PTPN23 Gene Ciliogenesis-Related Disorder NGS Test in UAE
Executive Summary & Core Metrics
This next-generation sequencing (NGS) test analyzes the complete coding region and splice sites of the PTPN23 gene, essential for primary cilia formation. Pathogenic variants in PTPN23 are linked to syndromic and non-syndromic hearing loss, chronic rhinosinusitis, recurrent otitis media, and broader ciliopathy phenotypes. The test provides actionable molecular data for ENT specialists and clinical geneticists guiding targeted surveillance and family counselling.
- ✓ISO-Certified Diagnostic Precision: 99.9% analytical sensitivity via ISO 9001:2015-accredited laboratory with bidirectional Sanger confirmation of all pathogenic variants.
- ✓VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM with ISO-certified medical courier transport.
- ✓Post-Test Clinical Guidance: Complimentary telephonic interpretation by our Consultant Medical Genetics specialist.
- ✓Insurance Direct Billing: Verify coverage instantly via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The assay employs targeted enrichment and next-generation sequencing on an Illumina platform to interrogate all exons and flanking splice sites (±20 base pairs) of the PTPN23 gene. Bioinformatic analysis detects single nucleotide variants, small insertions and deletions, and copy number alterations. All clinically significant findings are validated with Sanger sequencing. Results are integrated into an ACMG-compliant clinical report delivered within 3–4 weeks.
| Feature | PTPN23 NGS Full-Gene Assay | Single-Gene Sanger Alternative |
|---|---|---|
| Coverage | All exons & splice sites (±20 bp) | Selected hotspot 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 mutational hotspots |
Physician Insight & Safety Protocols
“Interpreting a PTPN23 variant requires integration of audiometric profiles, temporal bone imaging, and a three-generation pedigree. This NGS test provides essential molecular evidence for ciliopathy diagnosis, but the clinical context determines management. I personally review each report to correlate the genetic findings with the patient’s complete presentation and recommend appropriate multidisciplinary follow-up.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Essential Safety Advisory
Do not alter or discontinue any prescribed medication regimen — including corticosteroids, antihistamines, or antibiotic therapy — based solely on genetic test results. Genetic findings inform long-term surveillance and risk stratification but never replace acute clinical decisions. Always consult your treating physician before making any changes to your care plan. If you experience sudden hearing loss, acute vertigo with nystagmus, or facial palsy, seek immediate emergency medical attention.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients under 18 years of age without written informed consent from a legal guardian.
- Exclusion: Refusal to complete mandatory pre-test genetic counselling or failure to provide a documented three-generation family history.
- Emergency: Sudden, profound sensorineural hearing loss, acute vertigo with nystagmus, or new-onset facial nerve palsy — proceed directly to the nearest emergency department.
- Emergency: Signs of elevated intracranial pressure (severe headache, vomiting, blurred vision, papilledema) which may indicate an associated ciliopathy syndrome such as hydrocephalus.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PTPN23 gene test for ENT conditions?
Key Insight: This test identifies disease-causing variants in the PTPN23 gene, which encodes a protein essential for primary cilia assembly and function. Ciliary dysfunction is a known cause of chronic otitis media, recurrent rhinosinusitis, congenital hearing loss, and syndromic ciliopathies. The molecular diagnosis enables your ENT specialist to confirm the genetic aetiology, predict disease trajectory, and implement personalised surveillance strategies including serial audiometry and sinonasal imaging.
2. How should I prepare for the blood sample collection?
Key Insight: You must attend a mandatory pre-test genetic counselling session to construct a detailed three-generation pedigree before sample collection. No fasting is required. Please bring a complete list of current medications and details of any prior ENT surgeries or hospitalisations. The phlebotomist will collect 4 mL of whole blood in an EDTA tube or a single dried blood spot on an FTA card. The entire procedure takes approximately 15 minutes.
3. When will I receive my results and how are they communicated?
Key Insight: The standard turnaround time is 3–4 weeks from the date a properly collected sample is received by the laboratory. Your final clinical report is delivered as a secure, encrypted PDF to your referring physician. Our Consultant Medical Genetics will schedule a telephonic appointment to explain the variant classification in accordance with ACMG/AMP guidelines, discuss clinical implications, and recommend any necessary follow-up testing or specialist referrals.
4. Can this test be performed on children or during pregnancy?
Key Insight: Yes, the test is available for paediatric patients with appropriate guardian consent and mandatory pre-test counselling. For prenatal diagnosis, a separate chorionic villus sampling or amniocentesis procedure is required, which must be arranged through a maternal-fetal medicine specialist. All testing for minors strictly follows UAE federal regulations on paediatric genetic testing and data protection.
5. What is the price of the PTPN23 NGS test and does insurance cover it?
Key Insight: The total cost of the test is 2,800 AED. Many UAE-based health insurance providers offer partial or full coverage for medically indicated genetic diagnostics. To verify your specific policy benefits and obtain a pre-authorisation code, send your insurance details via WhatsApp to +971 54 548 8731. Our billing team will coordinate directly with your insurer.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: This diagnostic service operates in full compliance 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. All genetic sequence data and clinical metadata are encrypted, stored on secure UAE-hosted servers, and accessible only to DHA-licensed clinicians directly involved in your care. Patient consent for genetic testing and data processing is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Quality Accreditation: ISO 9001:2015 — Quality Management System Certificate No. INT/EGQ/2509DA/3139. The laboratory adheres to CAP/CLIA-equivalent standards and participates in external quality assessment schemes for molecular genetics.
Clinical References: Variant interpretation follows the 2024 ACMG/AMP guidelines. LOINC 86200-8 (Genetic result, note) is used for structured reporting. All methodologies are validated against population-specific genomic databases and peer-reviewed literature.
Clinical & Logistical Metadata
| Test Name | PTPN23 Gene Ciliogenesis-Related Disorder NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA card dried blood spot |
| Methodology Used | Next-Generation Sequencing (Illumina) with bidirectional Sanger confirmation |
| ICD-10-CM Code | Q87.8, H90.5 |
| LOINC Code | 86200-8 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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