Definition

Comprehensive genomic profiling (CGP) uses a single NGS-based test to screen for base substitutions, insertions/deletions, copy number changes and gene fusions in a tumor together. In the FoundationOne CDx example, 324 genes are analyzed and biomarkers such as TMB and MSI are also reported.

Method

Next Generation Sequencing

Accepted sample types

Solid Tumor-FFPE, Blood (EDTA)

Description

This test offers comprehensive genomic profiling. Within the panel, 500 gene regions are sequenced while fusion analysis is performed in 46 gene regions. The MSI panel is analyzed using next generation sequencing. The test result also provides HRD and TMB scores in the study. CNV-LOH analyses are included in the analysis.

Inheritance

Profiles somatic alterations through tumor tissue/blood; since some findings may be of germline origin, confirmation requires a germline test.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

Go to term →

Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

Go to term →

VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

Go to term →

How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

Go to term →

Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

Go to term →