Test Price
2,800 AED✅ Home Collection Available
CHEK2 Gene Li‑Fraumeni Syndrome Type 2 Genetic Test – 2800 AED – DNA Labs UAE
Executive Summary & Core Metrics
Diagnostic Accuracy: 99.9% analytical sensitivity and specificity achieved through ISO‑certified next‑generation sequencing (NGS) for comprehensive CHEK2 variant detection including single nucleotide variants, insertions, deletions, and copy number alterations.
Logistical Excellence: VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM, ensuring specimen integrity from draw to laboratory processing.
Post‑Test Clinical Guidance: Telephonic consultation with a DHA‑licensed consultant medical geneticist to interpret results and coordinate hereditary cancer risk management.
Insurance Verification: Real‑time coverage check via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced next‑generation sequencing (NGS) assay targets the complete coding region and splice junctions of the CHEK2 gene to identify pathogenic and likely pathogenic variants associated with Li‑Fraumeni syndrome type 2. The test delivers definitive hereditary cancer predisposition assessment for oncologists, medical geneticists, and researchers, enabling personalized surveillance and risk‑reduction strategies. Turnaround time is 21–28 calendar days from sample receipt.
| Feature | DNA Labs UAE NGS Panel | Conventional Sanger Sequencing |
|---|---|---|
| Analytical Sensitivity | 99.9% for SNVs, indels, and CNVs across entire CHEK2 gene | Limited to predefined hotspot exons; low sensitivity for large rearrangements |
| Methodology | Next‑Generation Sequencing (Illumina platform) with dual‑strand confirmation | Capillary electrophoresis per individual exon; no multiplex capability |
| Turnaround Time | 21–28 days (3–4 weeks) | 28–42 days (4–6 weeks), often requiring sequential exon runs |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh – Consultant Medical Genetics (DHA Registration ID: 9294403) states:
Clinical correlation with comprehensive family pedigree and physical examination remains indispensable when interpreting CHEK2 sequencing results. A pathogenic variant indicates elevated lifetime cancer susceptibility, yet it does not constitute a deterministic diagnosis of malignancy. Conversely, a negative sequencing result does not nullify baseline population risk, and all individuals should adhere to standard age‑appropriate cancer screening protocols as recommended by their primary care physician.
Safety Advisory
This genetic test is a risk assessment tool and does not replace ongoing pharmacological or surgical management. Patients must not alter or discontinue prescribed medications based on test results without explicit direction from their treating clinician. All clinical decisions require integrated evaluation of genetic, environmental, and lifestyle factors.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Allogeneic bone marrow transplant within the preceding six months, active hematological neoplasm that may compromise germline DNA extraction, or inability to provide informed consent.
- Emergency Red Flags: Acute chest pain, sudden severe headache, unexplained haemorrhage, or any symptom indicative of a medical crisis – seek immediate emergency care and postpone elective genetic testing until clinically stable.
Patient FAQ & Clinical Guidance
1. Why is CHEK2 gene testing essential for hereditary cancer risk assessment?
Detecting pathogenic variants in CHEK2 enables clinicians to implement tailored surveillance strategies that significantly reduce morbidity from hereditary breast, colorectal, and prostate cancers. This NGS assay identifies point mutations, small indels, and large copy‑number alterations across the entire gene, providing a comprehensive risk profile that informs screening frequency, chemoprevention, and risk‑reducing surgical options.
2. What does a positive CHEK2 result imply for first‑degree relatives?
A positive result confers a 50% probability that each parent, sibling, or child carries the same pathogenic variant, prompting cascade screening within the family. Predictive genetic testing should follow pre‑test genetic counseling. While an inherited CHEK2 mutation does not skip generations, its phenotypic expression varies; non‑carriers avoid unnecessary intensive monitoring, whereas carriers can initiate early risk‑management protocols.
3. How is the specimen collected and what is the experience like?
A standard venipuncture using a fine butterfly needle or a dried blood spot on an FTA card is performed by our trained mobile phlebotomy team. The procedure is completed within seconds, causes minimal transient discomfort, and requires no recovery time. Specimens are transported under continuous temperature‑controlled cold‑chain conditions to guarantee nucleic acid stability through laboratory processing.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: All genetic data are processed, transmitted, and stored in 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. Clinical testing safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Laboratory accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 1143. Post‑result telephonic guidance is delivered by DHA‑registered healthcare professionals.
Clinical & Logistical Metadata
| Test Name | CHEK2 Gene Li‑Fraumeni Syndrome Type 2 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina Platform |
| ICD-10-CM Code | Z15.09 |
| LOINC Code | 92930-2 |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
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