Health

Cancer Screening

A germline genetic screening test that identifies inherited variants associated with hereditary cancer syndromes and cancer susceptibility.

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Description

iLab Medical Cancer Screening is a comprehensive germline genetic analysis performed using Next-Generation Sequencing and Whole Exome Sequencing technology to identify inherited variants associated with hereditary cancer syndromes and cancer susceptibility.

This test is designed to detect pathogenic and likely pathogenic variants in genes linked to inherited cancer risk, supporting early intervention, targeted surveillance, and risk-reduction strategies.

Approximately 5-10% of all cancers are associated with inherited genetic variants. Identification of these variants enables earlier risk assessment and more personalized preventive care.

Unlike somatic tumor testing, this analysis focuses on germline variants that may indicate hereditary predisposition and provide clinically relevant information for both the individual and at-risk family members.

FOR LABORATORIES

Hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, hereditary pancreatic cancer, hereditary melanoma, prostate cancer susceptibility, renal cancer syndromes, and hematologic malignancy predisposition.

Benefits

Identifies inherited variants linked to hereditary cancer syndromes
Supports early risk assessment and preventive cancer care
Enables personalized surveillance and screening strategies
Supports risk-reducing interventions and long-term management
Helps identify at-risk family members through cascade testing
Improves early detection and personalized clinical follow-up

Process

Sample collection is performed using peripheral blood or saliva. Peripheral blood is the preferred sample type for germline analysis, while saliva may be used as a non-invasive alternative for preventive or outpatient testing.

After specimen receipt, DNA is processed for Whole Exome Sequencing and evaluated for inherited variants associated with hereditary cancer syndromes. The analysis focuses on germline risk assessment and supports preventive and surveillance-oriented clinical decision-making.

The final report supports identification of hereditary cancer predisposition, personalized surveillance planning, and follow-up strategies for both the tested individual and potentially affected family members.

FOR LABORATORIES

Specimen Requirements

Accepted Sample Types

  • Peripheral blood (preferred)
  • Saliva sample collected using a validated saliva DNA collection kit

Blood Sample Requirements

  • 2-4 mL whole blood
  • Collected in EDTA (lavender-top) tube
  • Provides high-quality germline DNA

DNA Requirements

  • Minimum 1 µg genomic DNA
  • Concentration: 100-250 ng/µL
  • A260/A280 ratio: 1.8-2.0
  • Intact high-molecular-weight DNA

Clinical Indications

  • Early-onset cancer including breast, colorectal, ovarian, pancreatic, or prostate cancer
  • Multiple primary cancers in a single individual
  • Strong family history of cancer
  • Known pathogenic variant in a family member
  • Rare or aggressive tumor histology
  • Pre-symptomatic risk assessment

Clinical Utility

  • Risk stratification for hereditary cancer predisposition
  • Personalized surveillance planning
  • Support for risk-reducing interventions
  • Cascade testing for family members
  • Improved preventive care and early detection strategies

Turnaround Time (TAT)

  • 6-9 weeks from receipt of acceptable specimen and complete clinical documentation

Limitations

  • Whole Exome Sequencing focuses primarily on coding regions
  • Deep intronic and regulatory variants may not be detected
  • Not all hereditary cancer genes have fully characterized risk profiles
  • Multifactorial cancer risk may also involve environmental and lifestyle factors
  • Results should be interpreted together with genetic counseling and clinical evaluation

How it works

After sample collection, DNA is extracted and analyzed using Whole Exome Sequencing on a Next-Generation Sequencing platform. The assay provides high-depth sequencing of coding regions and supports focused clinical interpretation of cancer susceptibility genes.

The analysis detects clinically relevant germline variants associated with hereditary cancer syndromes, including single nucleotide variants, small insertions and deletions, and selected copy number variations where applicable. Variant interpretation is performed using established clinical classification frameworks and curated cancer genetics resources.

The final report provides clinically relevant findings related to hereditary cancer predisposition and supports personalized surveillance planning, preventive care strategies, and family-based risk assessment.

FOR LABORATORIES

Methodology

  • Whole Exome Sequencing using a Next-Generation Sequencing platform
  • High-depth sequencing of coding regions across approximately 20,000 genes
  • Focused clinical interpretation of cancer susceptibility genes
  • Variant classification according to ACMG/AMP guidelines

Variant Detection Capabilities

  • Single Nucleotide Variants (SNVs)
  • Small insertions and deletions (indels)
  • Selected Copy Number Variations (CNVs)
  • Exon-level deletions and duplications where applicable

Bioinformatics and Interpretation

  • Alignment to reference genome GRCh37 or GRCh38
  • Clinical annotation using curated cancer genetics databases
  • Assessment of pathogenic variants
  • Assessment of likely pathogenic variants
  • Assessment of variants of uncertain significance where clinically relevant

Cancer Syndromes Evaluated

  • Hereditary Breast and Ovarian Cancer (HBOC)
  • Lynch syndrome
  • Familial Adenomatous Polyposis (FAP)
  • MUTYH-associated polyposis
  • Li-Fraumeni syndrome
  • Cowden syndrome
  • Peutz-Jeghers syndrome
  • Multiple Endocrine Neoplasia (MEN)
  • Hereditary pancreatic cancer
  • Hereditary melanoma
  • Prostate cancer susceptibility
  • Renal cancer syndromes
  • Hematologic malignancy predisposition
Cancer Screening
Consultation for clinics