Definition

Liquid biopsy characterizes the tumor genome non-invasively through analysis of circulating tumor DNA (ctDNA) from peripheral blood. In extended panels such as FoundationOne Liquid CDx, 324 genes as well as TMB and MSI status are evaluated together; it is used when tissue biopsy is not possible and in monitoring resistance mechanisms.

Method

Next Generation Sequencing

Accepted sample types

Blood (PaxGene Tube)

Description

NGS liquid biopsy panel (DNA+RNA fusion panel, 50 genes, 14 CNV, 18 fusion genes).

Inheritance

Screens for somatic alterations in tumor-derived cell-free DNA in blood; it is not germline tissue sampling.

Related Tests

Inheritance Patterns

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

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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

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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.

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

A genetic test result falls into three main categories

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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.

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