What sample is needed for the test?

A simple blood draw is required. The sample can be whole blood, extracted DNA, or a single drop on an FTA card.

How long does it take to receive the results?

The final report is typically delivered within 3–4 weeks from sample receipt.

What are the collection hours for the home collection service?

Our VIP home-collection team operates daily from 8 AM to 11 PM.

Genetics → Treacher Collins Syndrome

Results: 3–4 weeks Sample: Peripheral whole blood, extracted DNA, or FTA card

Test Price

2,800 AED

✅ Home Collection Available

📋 Results in 3–4 weeks

POLR1D Gene Treacher Collins Syndrome Type 2 Genetic Test in UAE | 2800 AED

Q: How does the POLR1D NGS test confirm Treacher Collins syndrome type 2?

The test sequences all coding exons of the POLR1D gene using Next-Generation Sequencing. It achieves over 99.9% analytical sensitivity for pathogenic variants described in modern genetic databases.

Q: Is this test covered by UAE health insurance?

Most major insurers in the UAE cover genetic testing for Treacher Collins syndrome when medically indicated. We verify your coverage directly via WhatsApp at +971 54 548 8731 before any payment.

Executive Summary & Core Metrics

✅ 99.9% Diagnostic Sensitivity – ISO-accredited NGS processing with AI-powered variant interpretation.
✅ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM.
✅ Telephonic Clinical Guidance – Expert interpretation of results by a DHA-licensed genetics consultant included.
✅ Direct Billing & Coverage Check – Verify insurance via WhatsApp: +971 54 548 8731.

Test Overview & Methodology

Treacher Collins syndrome (TCS) type 2 is a rare congenital disorder caused by mutations in the POLR1D gene, leading to distinctive craniofacial abnormalities. This NGS test reads the entire coding sequence of POLR1D to provide a definitive molecular diagnosis.

Feature	Our POLR1D NGS Test	Closest Alternative (Clinical Diagnosis Only)
Precision	99.9% detection of pathogenic variants	Subjective; relies on phenotypic assessment
Methodology	NGS with AI variant classification (ACMG)	Clinical examination / imaging
Turnaround	3–4 weeks	Months (referral to genetic centre)

Physician Insight & Safety Protocols

“Waiting for a genetic test result can be emotionally taxing. A positive POLR1D finding confirms the diagnosis, but clinical correlation with a craniofacial specialist remains essential to understand the full spectrum of the condition. Always use these results as part of a comprehensive, multidisciplinary care plan, never in isolation.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

⚠ Important Advisory

Do not discontinue any prescribed medication or alter care without consulting your doctor. This test is diagnostic, not prescriptive.

Exclusion Criteria & Emergency Red Flags

Exclusion: Recent blood transfusion (< 2 weeks), severe thrombocytopenia, or inability to obtain adequate DNA.
Red Flag: If the child develops acute breathing difficulty, cyanosis, or aspiration, seek emergency care immediately – do not wait for genetic test results.
Red Flag: Signs of feeding failure or airway obstruction in a neonate require urgent paediatric ENT evaluation.

Patient FAQ & Clinical Guidance

1. How does the POLR1D NGS test confirm Treacher Collins syndrome type 2?

The test sequences all coding exons of the POLR1D gene using Next‑Generation Sequencing, achieving over 99.9% analytical sensitivity for pathogenic variants described in modern genetic databases.

2. What sample is needed and how long until I receive the result?

Only a simple blood draw (whole blood, extracted DNA, or a single drop on an FTA card) is required; our VIP home‑collection team operates from 8 AM to 11 PM daily, and the final report is delivered in 3–4 weeks.

3. Will UAE health insurance cover this?

Most major insurers in the UAE cover genetic testing for Treacher Collins syndrome when medically indicated; we verify your coverage directly via WhatsApp at +971 54 548 8731 before any payment.

UAE Regulatory & Data Privacy Adherence

All patient data is processed in strict 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. Your genetic information is encrypted, access-controlled, and never shared without explicit consent. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name	POLR1D Gene Treacher Collins Syndrome Type 2 Genetic Test
Price (AED)	2,800
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood, extracted DNA, or FTA card
Methodology Used	Next-Generation Sequencing (NGS) with ACMG variant interpretation
ICD-10-CM Code	Q75.4
LOINC Code	93262-3
DHA Facility License & Laboratory Address	DHA License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE DNA Labs UAE

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Medically Reviewed by Dr. Lina Osama Zaki Quteineh

All content reviewed by qualified professionals for accuracy.

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All reports reviewed by DHA-Certified physicians