POLH Gene Xeroderma Pigmentosum Variant Type Genetic Test in UAE | AED 2800 | DNA Labs UAE

Executive Summary & Core Metrics – Definitive POLH Genotyping for Xeroderma Pigmentosum Variant Type (XP-V)

Premier Diagnostic Precision for XP-V in the UAE

Diagnostic Sensitivity & Accuracy: >99.9% across the POLH coding region and splice sites via ISO 15189:2022 accredited Next‑Generation Sequencing (NGS) platform.
Premium Logistics: Temperature‑controlled VIP home phlebotomy or secure medical courier for buccal swabs, available daily from 8 AM to 11 PM.
Clinical Guidance: Complimentary post‑test teleconsultation with a DHA‑licensed Consultant Medical Geneticist to explain results and implications.
Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731.

Test Overview & Methodology – Targeted NGS Sequencing of the POLH Gene

The POLH Gene Xeroderma Pigmentosum Variant Type (XP-V) Genetic Test is a targeted, high-resolution molecular assay that sequences the entire coding region and conserved splice sites of the POLH gene. This test is designed to identify biallelic pathogenic variants responsible for Xeroderma Pigmentosum complementation group V (XP-V), a rare autosomal recessive disorder characterised by extreme photosensitivity and a markedly increased risk of ultraviolet-induced skin malignancies. The assay empowers Dermatologists, Oncologists, and Medical Geneticists to deliver a definitive diagnosis, stratify cancer risk, and initiate a lifelong protocol of photoprotection and dermatologic surveillance.

Feature	Our Test – POLH Targeted NGS	Closest Alternative – Whole Exome Sequencing
Precision	Full gene sequencing with 100× average depth; detection of SNVs, indels, and CNVs specific to POLH	Broad coverage but may miss deep intronic POLH variants; variable depth
Methodology	Targeted Next‑Generation Sequencing (NGS) with Sanger confirmation	Untargeted exome capture; may require orthogonal validation
Turnaround Time	10 to 15 Working Days	4 to 6 Weeks

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist, I view the POLH gene sequencing test as an indispensable tool in the diagnostic odyssey of Xeroderma Pigmentosum. Identifying biallelic pathogenic variants in POLH not only confirms the XP-V subtype but also informs a precise, aggressive photoprotection and oncological surveillance plan. Genetic counselling is essential for all patients and their families navigating this diagnosis.”

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

Clinical Advisory & Patient Preparation

Patients are advised to provide a full clinical history, including sun sensitivity and family history of skin cancers. No special preparation such as fasting or medication adjustment is required for this genetic test. However, results must always be interpreted by a qualified geneticist or dermatologist within the complete clinical context. Do not discontinue any prescribed medications without consulting your referring physician.

Safety Exclusion Criteria & Informed Consent

Sample collection is deferred for patients with active systemic infections or haemodynamic instability until clinical stabilisation is confirmed.
For minor patients, explicit informed consent must be provided by a legal guardian in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
If you experience acute neurological symptoms, explosive blistering sunburn, or rapidly changing skin lesions, seek immediate medical attention regardless of pending genetic results.

Patient FAQ & Clinical Guidance

1. What is the POLH gene test and how does it help diagnose Xeroderma Pigmentosum variant type (XP-V)?

A: This NGS‑based test reads the complete DNA code of the POLH gene to identify pathogenic variants that cause XP-V. A definitive molecular diagnosis enables early, targeted interventions including rigorous sun avoidance, regular skin cancer screening, and genetic counselling for family planning.

2. Who should consider this genetic test and what are the clinical indications?

A: Individuals presenting with severe photosensitivity, early‑onset skin cancers, a family history of Xeroderma Pigmentosum, or clinical suspicion of a DNA repair disorder should consult a Dermatologist or Medical Geneticist regarding this test. It is also recommended for confirming a suspected XP-V diagnosis following a skin biopsy or clinical evaluation.

3. How accurate is the test and what does a positive result mean for my health management?

A: The assay delivers >99.9% analytical sensitivity for point mutations and small insertions or deletions. A positive result confirms a genetic predisposition to XP-V, which necessitates a lifelong, multidisciplinary management plan including strict photoprotection, regular ophthalmologic and dermatologic assessments, and cancer surveillance.

4. What is the process for sample collection and how long does it take to get results?

A: A standard peripheral blood sample (EDTA tube) or a buccal swab is collected by our skilled phlebotomist during a scheduled home visit or at a partner clinic. The sample is transported via a temperature‑controlled cold chain to our ISO‑accredited laboratory. Results are typically reported within 10 to 15 working days from sample receipt.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE strictly adheres to UAE 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. Our DHA‑licensed facility (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – License No. 1143) operates under an ISO 9001:2015 certified quality management system (Cert: INT/EGQ/2509DA/3139). All genetic testing is performed with explicit patient consent, compliant with Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name	POLH Gene Xeroderma Pigmentosum Variant Type Genetic Test (XP-V)
Price (AED)	2,800
Turnaround Time	10 to 15 Working Days
Sample Type / Matrix	Peripheral Whole Blood (EDTA) or Buccal Swab
Methodology Used	Targeted Next‑Generation Sequencing (NGS) with Sanger Confirmation
ICD-10-CM Code	Q82.1 (Xeroderma Pigmentosum)
LOINC Code	101399-2 (POLH gene mutation analysis)
DHA Facility License & Laboratory Address	Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DHA License No: 1143