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Test Price

2,800 AED

✅ Home Collection Available

CPA1 Gene Mutation Analysis – Hereditary Pancreatitis (Early-Onset) Genetic Test in UAE

Executive Summary & Core Metrics

Achieve 99.9% diagnostic sensitivity via ISO 15189:2021 accredited next‑generation sequencing (NGS). Premium VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection. Complimentary telephonic post‑test clinical guidance from a board‑certified medical geneticist. Insurance pre‑approval and direct billing supported – WhatsApp +971 54 548 8731.

Test Overview & Methodology

This next‑generation sequencing test analyzes the entire CPA1 gene, including all exons, intron‑exon boundaries, and known regulatory regions, to detect pathogenic mutations linked to hereditary chronic pancreatitis with early onset. It provides essential data for diagnosis, familial cascade screening, and personalized management of pancreatic disease.

Feature Our CPA1 NGS Test Closest Alternative (Sanger Sequencing)
Gene Coverage All exons, intron‑exon boundaries, and known regulatory regions Only pre‑selected hotspot mutations
Detection Power Identifies rare, novel, and copy number variants Limited to common point mutations
Turnaround Time 3–4 weeks 2–3 weeks
Clinical Utility Comprehensive risk stratification and family counseling Basic yes/no for a handful of mutations

Physician Insight & Safety Protocols

“The CPA1 gene plays a key role in pancreatic acinar cell homeostasis. Identifying a pathogenic mutation allows for early surveillance and family planning. However, results must be interpreted alongside personal and family history. I strongly recommend pre‑ and post‑test genetic counseling.”

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

Advisory Safety Notice

Clinical Warning: Never discontinue prescribed medication without consulting your managing physician. This genetic test does not replace regular medical follow‑up.

Exclusion Criteria & Emergency Red Flags

  • Acute pancreatitis symptoms (severe epigastric pain, nausea, vomiting) require immediate emergency care – delay genetic testing.
  • This test is not a substitute for acute diagnostic imaging or clinical evaluation.
  • Guardian consent is mandatory for minors (<18 years) per UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability.
  • Patients undergoing active chemotherapy or recent bone marrow transplant should discuss optimal timing with their specialist.

Patient FAQ & Clinical Guidance

1. What is the CPA1 gene and how does it cause hereditary pancreatitis?

The CPA1 gene encodes carboxypeptidase A1, a pancreatic digestive enzyme. Pathogenic mutations cause protein misfolding, leading to endoplasmic reticulum stress and chronic inflammation of pancreatic acinar cells, often presenting before age 20.

2. How should I prepare for the test, and is genetic counseling recommended?

No fasting or medication changes are needed. A pre‑test genetic counseling session is highly recommended to draw a detailed family pedigree and explain possible outcomes. Our mobile phlebotomy team collects a whole‑blood sample under strict cold‑chain conditions. Informed consent is obtained per DHA guidelines.

3. Why does the turnaround time take 3–4 weeks, and what does the report include?

NGS involves multiple quality steps – DNA extraction, library preparation, sequencing, bioinformatics analysis, and dual variant classification – to achieve 99.9% analytical accuracy. The report details detected variants, their clinical significance (per ACMG 2022 guidelines), inheritance pattern, and specific recommendations for surveillance and family testing.

UAE Regulatory & Data Privacy Adherence

  • Federal Decree‑Law No. 45 of 2021 (PDPL) – all genetic data encrypted end‑to‑end; strict access controls and purpose limitation.
  • Federal Law No. 2 of 2019 – governing use of information and communication technology in health fields, ensuring secure digital workflows.
  • Federal Decree‑Law No. 4 of 2016 – upholding patient safety, consent, and medical liability standards.
  • ISO 15189:2021 Accredited Laboratory – quality management throughout the analytical process.
  • Reporting follows DHA/MOHAP Standard Nomenclature and ACMG 2022 variant interpretation guidelines.

Clinical & Logistical Metadata

Test Name CPA1 Gene Mutation Analysis (Hereditary Pancreatitis, Early-Onset)
Price (AED) 2,800
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral whole blood (also accepted: extracted DNA, FTA card)
Methodology Used Next‑Generation Sequencing (NGS) – Full gene sequencing with CNV analysis
ICD-10-CM Code K86.1
LOINC Code 94543-9
DHA Facility License & Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Lab: DNA Labs UAE

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