Test Price
2,800 AED✅ Home Collection Available
PIK3CA Gene (Cowden Syndrome Type 5) NGS Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Utility & Diagnostic Accuracy
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited Next-Generation Sequencing (NGS) processing for single nucleotide variants and insertions/deletions in the PIK3CA gene.
- Corporate Oversight: DNA Labs UAE (DHA License 1143) delivers this high-complexity molecular diagnostic under strict ISO 9001:2015 quality management standards.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, ensuring sample integrity for DNA extraction and sequencing.
- Clinical Guidance: Mandatory pre-test genetic counselling session for pedigree charting and informed consent, followed by a telephonic post-test clinical guidance session for result interpretation.
- Insurance & Billing: Direct billing verification and insurance coverage checks available instantly via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PIK3CA Gene Cowden Syndrome Type 5 Genetic Test utilizes Next-Generation Sequencing (NGS) for high-resolution detection of pathogenic variants in the PIK3CA gene. This comprehensive analysis is essential for confirming a diagnosis of Cowden syndrome type 5, an autosomal dominant condition characterized by an increased lifetime risk of breast, thyroid, endometrial, and colorectal malignancies. Identification of a germline PIK3CA pathogenic variant enables risk-stratified cancer surveillance and personalized management strategies.
| Feature | Our Test (PIK3CA NGS) | Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Sensitivity | 99.9% for SNVs & indels across full coding region | ~95% sensitivity, limited to targeted exons |
| Methodology | NGS (Next Generation Sequencing) – full coding region & splice sites | Sanger sequencing – selected exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
"Genetic testing for Cowden syndrome type 5 requires careful integration of molecular data with comprehensive clinical phenotyping and a documented three-generation family pedigree. The identification of a PIK3CA mutation is not a standalone cancer diagnosis but a powerful risk-stratification tool. All results must be interpreted within the context of the patient's personal and family history by a qualified clinical geneticist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
⚠️ Important Clinical Advisory
- Informed Consent: A mandatory genetic counselling session must be completed prior to sample collection to discuss potential implications, including the possibility of incidental findings.
- Variant Classification: All reported variants are classified according to ACMG/AMP guidelines. Variants of uncertain significance (VUS) may require segregation analysis or functional studies.
- Medication Adherence: Do not discontinue any prescribed medication or initiate new therapies based on test results without explicit consultation with your treating physician.
🚫 Exclusion Criteria & Clinical Red Flags
- Exclusion Criteria: Patients who have received a blood transfusion within the past 2 weeks, or who are unable to provide valid informed consent, are not eligible for this testing pathway.
- Emergency Red Flags: This test is not intended for the evaluation of acute symptoms. If you experience sudden severe headaches, vision changes, new palpable masses, or neurological deficits, seek immediate emergency medical evaluation.
Patient FAQ & Clinical Guidance
1. What is the PIK3CA gene Cowden syndrome type 5 test?
The PIK3CA NGS genetic test is a high-complexity molecular diagnostic assay that analyzes the full coding sequence and splice sites of the PIK3CA gene. It is specifically designed to detect germline pathogenic mutations that confirm a diagnosis of Cowden syndrome type 5, a hereditary cancer predisposition syndrome. The test results guide risk-reducing clinical management strategies, including enhanced cancer surveillance.
2. How should I prepare for this genetic test?
Preparation involves a mandatory pre-test genetic counselling session to document your family pedigree, discuss the scope of genetic testing, and address potential psychosocial implications. No special dietary or medication restrictions are required unless specified by your referring physician. Please inform the genetic counsellor of any recent blood transfusions or active pregnancy.
3. What does a positive result mean for me and my family?
A positive result confirms the presence of a pathogenic or likely pathogenic variant in the PIK3CA gene associated with Cowden syndrome type 5. This indicates a significantly elevated lifetime risk for several cancers, including breast, thyroid, and endometrial cancers. It is crucial to discuss these results with a clinical geneticist to establish a tailored cancer surveillance plan and to inform at-risk biological relatives about the option for predictive testing.
UAE Regulatory & Data Privacy Adherence
🛡️ Data Protection, Legal Compliance & Provider Information
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data and personal information are processed, stored, and transmitted in full compliance with the UAE PDPL, ensuring your data is handled with the highest standards of confidentiality and security.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure adheres strictly to this law, governing the secure electronic exchange of medical records and telemedicine services.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, including genetic testing and counselling, are performed under the legal framework of medical liability, ensuring patient safety and rigorous professional accountability.
- Provider Information: DNA Labs UAE, operating under DHA License No: 1143, ensures full compliance with all federal and local healthcare regulations. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | PIK3CA Gene (Cowden Syndrome Type 5) Genetic Test – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full coding region & splice sites, >30x coverage, ACMG/AMP variant classification |
| ICD-10-CM Code | Q85.81, Z15.01, Z15.09 |
| LOINC Code | 94074-4 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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