Definition

While the NCCN guideline recommends that EGFR, ALK, ROS1 and PD-L1 be tested at a minimum in NSCLC, the broader molecular profiling approach also requires evaluation of BRAF, ERBB2, KRAS, METex14 and NTRK1/2/3 and RET rearrangements. NGS panels make it possible to evaluate all of these genes at once.

Gene/region examined

FGFR2, BRAF, KRAS, NRAS, MET, CDK6, EGFR, SOD2, ESR1, ROS1, RICTOR, TERT, KIT, PDGFRA, PIK3CA, MYD88, ERBB4, IDH1, IDH2, ALK, STK11, ERBB2, TP53, MAP2K1, AKT1, CDK4, GAPDH, PTEN, DDR2, NTRK1

Method

Next Generation Sequencing

Accepted sample types

Solid Tumor-FFPE

Inheritance

Entirely somatic (acquired in tumor tissue) mutation and fusion analysis; germline tissue is not evaluated.

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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