PMS2 Gene (Lynch Syndrome Type 4) NGS Genetic Test in Dubai | 2,800 AED

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing.

Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (blood or FTA card) available daily 8 AM–11 PM across all UAE emirates.

Clinical Guidance: Complimentary post‑test tele‑consultation with a genetic counselor for result interpretation.

Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Executive Summary & Core Metrics

This advanced genetic test employs Next‑Generation Sequencing (NGS) to perform full‑gene analysis of the PMS2 gene, detecting point mutations, small insertions/deletions, and large copy‑number variations implicated in Lynch syndrome Type 4 (hereditary nonpolyposis colorectal cancer syndrome). The result provides a lifetime risk stratification for colorectal, endometrial, and other Lynch‑associated cancers, enabling personalised surveillance and preventive strategies for patients and their at‑risk relatives.

Test Overview & Methodology

Next‑Generation Sequencing of the entire PMS2 coding region plus flanking intronic sequences, with dedicated bioinformatic analysis for large rearrangements (CNVs). DNA is extracted from a peripheral blood sample or FTA card. The test is performed in our CLIA‑equivalent and ISO 15189 accredited laboratory.

Feature	Our Test (PMS2 NGS)	Closest Alternative (Single‑Site Sanger)
Methodology	NGS (full‑gene sequencing + CNV)	Sanger sequencing (targeted known mutation only)
Diagnostic Sensitivity	>99.9% (missense, indels, large rearrangements)	~85% (only pre‑specified variants)
Turnaround Time	3–4 weeks	2–3 weeks (limited scope)
Clinical Utility	Comprehensive Lynch syndrome type 4 risk stratification	Confirmation of known family mutation only

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I emphasize that a PMS2 gene result must always be interpreted within the context of the patient’s personal and family history. A pathogenic variant conveys a significantly elevated lifetime risk for colorectal and other Lynch‑spectrum cancers, but it does not mean cancer is present today. This information should guide intensified surveillance (e.g., colonoscopy every 1–2 years) and, when appropriate, prophylactic measures. I strongly recommend a pre‑test and post‑test consultation with a clinical geneticist to ensure informed decision‑making.”

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

Advisory Considerations

This genetic test does not replace ongoing colonoscopic surveillance or routine oncological care. Continue all prescribed medications unless your doctor advises otherwise. If you experience acute symptoms such as sudden rectal bleeding, severe abdominal pain, or unexplained weight loss, seek immediate emergency care—these require independent clinical evaluation unrelated to genetic testing.

Exclusion Criteria & Emergency Red Flags

Recent blood transfusion (within 2 weeks) may interfere with germline DNA analysis; please inform our team before sampling.
Active chemotherapy – consult your oncologist about optimal timing for sample collection.
Personal history of allogeneic bone marrow transplant – we need to discuss alternative sample types (e.g., skin biopsy).
If you develop sudden rectal bleeding, severe abdominal pain, or unexplained weight loss, seek immediate emergency care – these symptoms warrant urgent evaluation independent of this genetic test.

Patient FAQ & Clinical Guidance

1. What does the PMS2 gene NGS test detect, and who should consider it?

This test sequences the entire PMS2 gene to identify inherited mutations that cause Lynch syndrome type 4. It is recommended for individuals with a strong family history of colorectal or endometrial cancer meeting Amsterdam or revised Bethesda criteria, or those with a known PMS2 variant in the family.

2. How is the sample collected, and is a blood draw always required?

You may provide a standard venous blood sample (5 ml in an EDTA tube), extracted genomic DNA (2 µg), or a single drop of blood on an FTA card. Our VIP mobile phlebotomy team collects the sample at your home, office, or hotel across all UAE emirates, Monday–Sunday, 8 AM to 11 PM.

3. When will I receive my results, and how are they interpreted?

Results are typically released within 3–4 weeks. They include a clear five‑tier classification (pathogenic, likely pathogenic, uncertain significance, likely benign, benign) per ACMG/AMP guidelines. You are entitled to a complimentary post‑test tele‑consultation with a genetic counselor to discuss clinical implications and next steps.

UAE Regulatory & Data Privacy Adherence

All genetic testing processes at DNA Labs UAE strictly comply with:

Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing patient data collection, processing, and storage.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating electronic health records and telemedicine.
Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring clinical safety and patient consent standards.

Your genetic data remains strictly confidential, encrypted, and accessible only to the managing physician and the genetic counseling team upon your written consent.

Clinical & Logistical Metadata

Test Name	PMS2 Gene (Lynch Syndrome Type 4) NGS Sequencing
Price (AED)	2,800
Turnaround Time	3–4 weeks
Sample Type / Matrix	Whole blood (EDTA), extracted genomic DNA, or FTA card
Methodology Used	Next‑Generation Sequencing (NGS) with CNV analysis
ICD-10-CM Code	Z15.09 (Genetic susceptibility to other malignant neoplasm of large intestine), Z80.3 (Family history of malignant neoplasm of large intestine)
LOINC Code	81247-9 (PMS2 gene full sequencing)
DHA Facility License & Address	License No. 1143 \| DNA Labs UAE \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE