Definition

Tumor molecular profiling is NGS-based and identifies somatic mutations, copy number changes and fusions in the tumor, enabling the determination of a patient-specific molecular subtype and matching to targeted treatment options; it is the underlying rationale of comprehensive genomic profiling (CGP).

Method

Next Generation Sequencing

Accepted sample types

Solid Tumor, FFPE, Blood (EDTA)

Description

This test covers sequence analysis of 486 gene regions for the detection of somatic mutations. In this analysis, both FFPE/fresh tissue and the patient's EDTA blood are analyzed together.

Inheritance

Profiles somatic molecular changes based on tumor tissue.

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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