Test Price
2,800 AED✅ Home Collection Available
POLR1C Gene Treacher Collins Syndrome Type 3 Genetic Test | 2800 AED
Executive Summary & Core Metrics
This high-precision genetic test diagnoses Treacher Collins syndrome type 3 (TCS3) by sequencing the POLR1C gene coding regions using Next-Generation Sequencing (NGS). Performed in an ISO 9001:2015‑certified laboratory, the assay delivers 99.9% analytical sensitivity and specificity for UAE patients.
- 99.9% diagnostic accuracy through full gene sequencing (all exons and splice sites).
- VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- Post‑test telephone consultation with a DHA‑licensed consultant geneticist to interpret results.
- Direct insurance pre‑approval verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The POLR1C gene NGS test identifies pathogenic variants in the entire coding region of POLR1C, confirming a diagnosis of Treacher Collins syndrome type 3 (TCS3), a rare craniofacial disorder. This comprehensive analysis is performed in an ISO 9001:2015‑certified laboratory, ensuring 99.9% analytical sensitivity and accuracy.
| Feature | Our Test (POLR1C NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% full gene sequencing (all exons, splice sites) | Limited to pre‑defined hotspot regions |
| Method | Next Generation Sequencing (NGS) – comprehensive analysis | Sanger sequencing – individual exon testing |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (often multiple rounds) |
| Price (UAE) | 2800 AED | 3500+ AED |
Physician Insight & Safety Protocols
“Navigating a possible diagnosis of Treacher Collins syndrome for your child can be deeply challenging. This NGS test provides essential molecular confirmation that guides clinical care and family planning. Always interpret this result with a multidisciplinary team and never discontinue any prescribed medications without professional advice.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Safety Advisory
Do not discontinue or change any prescribed medication without consulting your treating physician. This genetic test does not replace clinical judgment or ongoing medical management.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic minors without clinical suspicion of Treacher Collins syndrome type 3 and without pre‑test genetic counselling.
- Exclusion: Samples not collected according to the validated DNA extraction protocol (blood, FTA card, or extracted DNA).
- ER Red Flag: If the patient develops severe respiratory distress, cyanosis, or inability to swallow/feed, seek emergency medical care immediately. This genetic test is not a substitute for urgent clinical evaluation.
- ER Red Flag: New‑onset stridor or apnoeic episodes warrant immediate hospital assessment, regardless of pending test results.
Patient FAQ & Clinical Guidance
1. What is the POLR1C gene test and how is it performed?
The test sequences the entire coding region of the POLR1C gene to identify mutations that cause Treacher Collins syndrome type 3. It uses Next‑Generation Sequencing (NGS) from a blood sample, FTA card, or extracted DNA. A mandatory pre‑test genetic counselling session is required.
2. Who should consider the POLR1C genetic test?
Individuals with clinical features of Treacher Collins syndrome type 3 (malar hypoplasia, micrognathia, lower eyelid coloboma) or a known family history of TCS3. At‑risk relatives may also be tested after appropriate genetic counselling.
3. What is the turnaround time and cost for this test in UAE?
The POLR1C genetic test is available for 2800 AED with results provided within 3–4 weeks. The all‑inclusive price covers home collection, NGS processing, and a detailed report reviewed by a DHA‑licensed consultant geneticist. A telephonic consultation for result interpretation is included. Insurance pre‑approval assistance is available via WhatsApp.
UAE Regulatory & Data Privacy Adherence
This laboratory service strictly complies with UAE data protection and health informatics regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensures patient data is collected, processed, and stored securely with explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governs the handling of electronic health records and telemedicine consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – underpins clinical safety and patient consent obligations for diagnostic procedures.
Clinical & Logistical Metadata
| Test Name | POLR1C Gene Treacher Collins Syndrome Type 3 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube), FTA card, or extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coding region and splice sites |
| ICD-10-CM Code | Q75.4 (Mandibulofacial dysostosis, includes Treacher Collins syndrome) |
| LOINC Code | 81266-1 (Genetic test for inherited disorder) |
| DHA Facility License & Laboratory Address | DHA License: 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians