EPCAM Gene Colorectal Cancer Hereditary Nonpolyposis Type 8 NGS Genetic DNA Test

Understanding EPCAM Gene Testing for Hereditary Colorectal Cancer

The EPCAM Gene Colorectal Cancer Hereditary Nonpolyposis Type 8 NGS Genetic DNA Test represents a breakthrough in cancer genetics, specifically designed to detect mutations in the EPCAM (Epithelial Cell Adhesion Molecule) gene. This gene plays a critical role in Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), which accounts for approximately 3-5% of all colorectal cancer cases. Early identification of EPCAM mutations enables proactive medical management and significantly reduces cancer mortality through targeted surveillance and preventive measures.

What This Advanced Genetic Test Detects

Our comprehensive NGS (Next-Generation Sequencing) test specifically analyzes the EPCAM gene for:

• Point mutations and small insertions/deletions in the EPCAM coding regions
• Large genomic rearrangements affecting EPCAM gene function
• Epigenetic modifications that may silence MSH2 expression
• Genetic variants associated with Lynch syndrome type 8
• Inherited mutations that increase colorectal cancer susceptibility

Clinical Significance of EPCAM Mutations

EPCAM gene deletions cause Lynch syndrome through epigenetic silencing of the neighboring MSH2 gene, leading to DNA mismatch repair deficiency. This creates a molecular environment where cancer-causing mutations accumulate rapidly, significantly increasing lifetime colorectal cancer risk to 60-80% in mutation carriers compared to 5-6% in the general population.

Who Should Consider EPCAM Genetic Testing?

This test is particularly recommended for individuals with:

• Personal history of colorectal cancer diagnosed before age 50
• Family history of Lynch syndrome-associated cancers (colorectal, endometrial, gastric, ovarian, urinary tract)
• Multiple primary Lynch syndrome-related cancers
• Colorectal cancer with abnormal microsatellite instability (MSI) testing
• First-degree relatives of known EPCAM mutation carriers
• Individuals meeting Amsterdam II criteria or revised Bethesda guidelines
• Unexplained family clustering of gastrointestinal cancers

Recognizing Potential Symptoms and Risk Factors

Early warning signs that may indicate EPCAM mutation carrier status include:

• Unexplained rectal bleeding or blood in stool
• Persistent changes in bowel habits
• Abdominal pain or cramping that doesn’t resolve
• Unexplained weight loss and fatigue
• Iron deficiency anemia in adults
• Family history spanning multiple generations

Comprehensive Benefits of EPCAM Genetic Testing

Undergoing EPCAM genetic testing provides numerous advantages for cancer prevention and management:

• Personalized Cancer Screening: Enables tailored colonoscopy schedules starting at age 20-25 or 2-5 years before earliest family diagnosis
• Early Detection Opportunities: Identifies high-risk individuals before cancer develops
• Family Risk Assessment: Provides crucial information for relatives’ cancer risk evaluation
• Treatment Guidance: May influence surgical decisions and chemotherapy options
• Psychological Relief: Reduces uncertainty and anxiety about inherited cancer risk
• Reproductive Planning: Informs family planning decisions and prenatal testing options
• Cost-Effective Prevention: Early intervention significantly reduces long-term healthcare costs

Understanding Your Test Results

Our comprehensive genetic counseling support helps you interpret your EPCAM test results:

Positive Result Interpretation

A positive result indicates an identified EPCAM mutation associated with Lynch syndrome. This doesn’t mean you have cancer, but rather identifies significantly increased lifetime cancer risks requiring:

• Enhanced cancer surveillance protocols
• Consideration of risk-reducing interventions
• Family member testing recommendations
• Lifestyle modifications to reduce additional risk factors

Negative Result Interpretation

A negative result suggests no detectable EPCAM mutation was found. However, this doesn’t completely eliminate cancer risk, as other genetic or environmental factors may contribute. Regular age-appropriate cancer screening remains important.

Variant of Uncertain Significance (VUS)

Occasionally, genetic changes of unknown clinical significance are identified. These require ongoing monitoring as scientific knowledge evolves, and don’t currently alter medical management recommendations.

Test Pricing and Availability

Nationwide Testing Availability

GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our certified genetic counselors and oncology specialists provide pre-test counseling and post-test support throughout your genetic testing journey.

Pre-Test Requirements

Before undergoing EPCAM genetic testing, we recommend:

• Comprehensive clinical history documentation
• Genetic counseling session with our certified specialists
• Development of detailed family pedigree chart
• Discussion of potential implications for family members
• Informed consent process explaining benefits and limitations

Take Control of Your Genetic Health Today

Don’t let uncertainty about hereditary cancer risk dictate your future. The EPCAM Gene Colorectal Cancer Hereditary Nonpolyposis Type 8 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and proactive health management. Our team of oncology genetics specialists stands ready to guide you through every step of the testing process.

Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your EPCAM genetic test. Take the first step toward personalized cancer prevention and secure your family’s health legacy.