Definition

Internal tandem duplication (ITD) in the FLT3 gene is the most common type of FLT3 mutation, seen in approximately 25% of AML cases. It is associated with high leukemic burden and disrupts autoinhibition of the tyrosine kinase receptor, leading to constitutive activation. Allelic ratio and ITD length affect survival; they are associated with poor prognosis, increased relapse rate and reduced disease-free survival.

Gene/region examined

FLT3 ITD, FLT3 D835

Method

DNA analysis

Accepted sample types

Blood (EDTA), bone marrow (EDTA)

Description

Diagnosis and monitoring of AML.

Inheritance

This is somatic, a mutation acquired in leukemic blasts.

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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