Definition

Real-time quantitative RT-PCR allows numerical monitoring of the CBFB-MYH11 fusion transcript (the A, D, and E subtypes together account for ~98% of all breakpoints) in bone marrow or peripheral blood; MRD quantitation predicts relapse risk.

Method

Real-time PCR (IPSOGEN)

Accepted sample types

Bone marrow (EDTA)

Description

Diagnosis.

Inheritance

The CBFB-MYH11 transcript monitored is the same as the somatic fusion present at diagnosis; it is not a hereditary finding, and monitoring it tracks disease burden.

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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