Definition

Medium-scale NGS panels used in myeloid neoplasms screen for somatic mutations relevant to diagnosis, prognosis and treatment selection. Commonly targeted genes include ASXL1, CALR, CEBPA, DNMT3A, FLT3, IDH1/2, JAK2, NPM1, RUNX1, TET2 and TP53.

Gene/region examined

SRSF2, SF3B1, CBL, ZRSR2, IDH1, TP53, NRAS, SETBP1, DNMT3A, CEBPA, U2AF1, CALR, CSF3R, IDH2, ASXL1, NPM1, RUNX1, KRAS, SH2B3, JAK2, KIT, FLT3, TET2, EZH2, MPL

Method

Next Generation Sequencing

Accepted sample types

Solid Tumor-FFPE

Inheritance

Detects somatic mutations originating from the tumor (leukemic clone) in a bone marrow or peripheral blood sample; matched normal tissue may be required to distinguish germline variants.

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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