Definition

Real-time quantitative RT-PCR (RQ-PCR) is a molecular method that numerically measures BCR-ABL1 mRNA transcript levels in peripheral blood or bone marrow. Results standardized to the International Scale (IS) are used to monitor treatment response and minimal residual disease in CML.

Method

Real-time PCR (IPSOGEN)

Accepted sample types

Bone marrow (EDTA)

Description

Diagnosis: Acute Lymphoblastic Leukemia (ALL), Acute Myeloid Leukemia (AML), Chronic Myeloid Leukemia (CML).

Inheritance

The BCR-ABL1 transcript being monitored belongs to the same somatic fusion as the FISH finding at diagnosis; it is not hereditary and only reflects the change in disease burden over time.

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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