Description
The Germline Panel – Colorectal Cancer is a comprehensive hereditary cancer genetic test designed to identify inherited mutations associated with colorectal cancer predisposition. Colorectal cancer is one of the most common cancers globally, with ~1.9 million cases reported (GLOBOCAN 2022), and 5–10% of cases are hereditary.
This advanced Next-Generation Sequencing (NGS)-based panel evaluates multiple genes linked to major hereditary syndromes, including Lynch syndrome, Familial Adenomatous Polyposis, and MUTYH-associated polyposis. It enables early cancer detection, risk stratification, and precision oncology care. Non-fasting.
Sample Required:
The Germline Panel – Colorectal Cancer requires a blood sample, collected in an EDTA vacutainer (purple top). The sample must be transported under refrigerated conditions (2–8°C) within 72 hours.
Test Time:
The test results are typically available within 12–14 days, depending on sequencing and reporting workflows.
Test Normal Range:
The normal result is no pathogenic or likely pathogenic mutations detected in the tested genes.
- Negative: No clinically significant mutation identified
- Positive: Pathogenic mutation detected (increased colorectal cancer risk)
- VUS (Variant of Uncertain Significance): Requires further genetic evaluation
What is the test?
The Germline Panel – Colorectal Cancer is a multi-gene NGS-based test used for hereditary colorectal cancer screening. It identifies inherited mutations in genes responsible for DNA repair, tumor suppression, and polyposis syndromes.
This test supports:
- Early detection of colorectal cancer risk
- Diagnosis of hereditary syndromes such as Lynch syndrome and FAP
- Personalized screening protocols (e.g., colonoscopy intervals)
- Family risk assessment and cascade testing
Test Procedure:
A blood sample is collected and processed using high-depth NGS technology (~450x coverage). DNA sequencing identifies mutations, insertions, deletions, and copy number variations across multiple genes. Results are analyzed by molecular geneticists and oncologists.
When to take the test?
This test is recommended in the following scenarios:
- Colorectal cancer diagnosed before age 50
- Individuals with multiple colorectal polyps (>10)
- Family history of polyposis syndromes or Lynch syndrome
- Patients meeting Amsterdam or Bethesda criteria
- Individuals with multiple or recurrent cancers
Who should take this test?
- Individuals with early-onset colorectal cancer
- Patients with strong family history of colorectal or related cancers
- Individuals with polyposis syndromes (FAP/MAP)
- Families requiring genetic counseling and cancer risk assessment
- Patients seeking precision oncology-based screening strategies
Precautions for exceptional cases (pregnancy etc.):
Pregnant individuals or those with underlying medical conditions should consult their healthcare provider before testing. Genetic counseling is strongly recommended to understand test implications for both the individual and family members.
Genes Covered
APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
Indications for Testing
- Early-onset colorectal cancer (<50 years)
- Multiple colorectal polyps or polyposis syndromes
- Family history of Lynch syndrome or hereditary cancers
- Meeting Amsterdam/Bethesda criteria
- Need for advanced genetic risk assessment
Inheritance Pattern
- Autosomal dominant: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM), APC (FAP)
- Autosomal recessive: MUTYH-associated polyposis (MAP)
- First-degree relatives may have up to 50% risk (dominant genes)
Why is This Test Important?
The Germline Panel – Colorectal Cancer enables:
- Early identification of hereditary colorectal cancer risk
- Implementation of enhanced surveillance (colonoscopy screening)
- Preventive strategies including risk-reducing interventions
- Improved clinical outcomes through early detection and precision care
Applicable Cancers
- Colorectal Cancer
Technical Information
- Methodology: Next-Generation Sequencing (NGS)
- Depth of Coverage: ~450x (high sensitivity and accuracy)
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