Description
The Lynch Syndrome Panel is a specialized hereditary cancer genetic test designed to detect mutations in DNA mismatch repair (MMR) genes associated with Lynch syndrome—the most common inherited cause of colorectal cancer and endometrial cancer.
This panel evaluates key MMR genes including MLH1 gene, MSH2 gene, MSH6 gene, PMS2 gene, and EPCAM gene. Mutations in these genes lead to microsatellite instability (MSI) and significantly increase the risk of early-onset cancers.
This NGS-based cancer genetic panel is essential for early cancer detection, hereditary cancer screening, and precision oncology management. Non-fasting.
Sample Required:
The Lynch Syndrome Panel 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 10–14 days, depending on sequencing and analysis workflows.
Test Normal Range:
The normal result is no pathogenic mutation detected in the MMR genes tested.
- Negative: No clinically significant mutation identified
- Positive: Pathogenic mutation detected (increased cancer risk)
- VUS (Variant of Uncertain Significance): Requires further clinical correlation
What is the test?
The Lynch Syndrome Panel is an advanced Next-Generation Sequencing (NGS)-based genetic test used to identify inherited mutations in MMR genes responsible for DNA repair.
This test plays a key role in:
- Hereditary colorectal cancer screening
- Detection of microsatellite instability (MSI-related cancers)
- Precision oncology and targeted surveillance strategies
Test Procedure:
A blood sample is collected and analyzed using high-depth NGS technology (~450x coverage). DNA sequencing identifies mutations, deletions, and duplications in MMR genes. Results are interpreted by molecular geneticists and oncologists.
When to take the test?
This test is recommended in the following scenarios:
- Diagnosis of colorectal or endometrial cancer at a young age
- Family history of Lynch syndrome-associated cancers
- Patients meeting Amsterdam or revised Bethesda criteria
- Individuals with multiple primary cancers
- Before initiating personalized cancer surveillance programs
Who should take this test?
- Individuals with early-onset colorectal cancer
- Patients with endometrial cancer and family history of cancer
- Families with multiple generations affected by cancer
- Individuals suspected of hereditary cancer syndromes
- Patients seeking genetic counseling and cancer risk assessment
Precautions for exceptional cases (pregnancy etc.):
Pregnant individuals or those with underlying medical conditions should consult their healthcare provider before testing. Pre-test and post-test genetic counseling is strongly recommended to understand the medical and familial implications.
Genes Covered
EPCAM, MLH1, MSH2, MSH6, PMS2
Indications for Testing
- Early-onset colorectal or endometrial cancer
- Family history of Lynch syndrome-related cancers
- Meeting Amsterdam/Bethesda clinical criteria
- Multiple cancers in the same individual or family
- Need for genetic risk stratification and surveillance planning
Inheritance Pattern
Lynch syndrome follows an autosomal dominant inheritance pattern:
- A single mutated gene increases cancer risk
- 50% chance of inheritance among first-degree relatives
- Leads to microsatellite instability (MSI) and tumor development
Why is This Test Important?
The Lynch Syndrome Panel enables:
- Early identification of high-risk individuals
- Implementation of regular screening (colonoscopy, imaging)
- Preventive interventions and risk-reducing strategies
- Improved survival outcomes through early detection
Applicable Cancers
- Colorectal Cancer
- Endometrial Cancer
- Stomach Cancer
- Small Intestine Cancer
- Ovarian Cancer
- Kidney & Ureter Cancer
- Pancreatic Cancer
- Liver Cancer
- Brain Tumors
- Bladder Cancer
- Prostate Cancer
Technical Information
- Methodology: Next-Generation Sequencing (NGS)
- Depth of Coverage: ~450x (high sensitivity and accuracy)
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