Definition

IDH1 gene mutations are seen in 6 to 10% of AML patients and in more than 70% of low-grade gliomas. The mutant IDH1 enzyme produces the oncometabolite 2-hydroxyglutarate, leading to DNA/histone hypermethylation and a block in myeloid differentiation.

Gene/region examined

IDH1 exon 4

Method

DNA analysis

Accepted sample types

Bone marrow (EDTA), FFPE

Description

AML prognosis.

Inheritance

This is somatic, a mutation acquired in tumor tissue in both AML and glioma.

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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