Definition

Trisomy 13 (+13) is a recurrent but rare numerical abnormality in myeloid neoplasms (AML/MDS); the literature has reported an association particularly with RUNX1-mutated AML cases. It must be distinguished from chromosome 13 deletion (13q-), where the abnormality is a gain of the entire chromosome.

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin)

Description

Prognosis.

Inheritance

Somatic; an acquired aneuploidy in the leukemic/dysplastic clone.

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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