Definition

Isolated deletion spanning the 20q13 region is a distinct cytogenetic subgroup seen in MDS; it is associated with a low platelet count, low bone marrow blast percentage and a low risk score. Median overall survival exceeds 60 months, progression to AML occurs in only 13%, and it responds well to ESA treatment (stable erythroid response 61.8%).

Method

FISH analysis

Accepted sample types

Bone marrow, Blood (heparin)

Description

AML, MDS, PV prognosis and treatment response.

Inheritance

Somatic; when cases involving hereditary bone marrow failure syndromes are excluded, it is an acquired (clonal) finding in de novo MDS.

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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