Rapid Molecular Diagnostics for Acute Myeloid Leukemia Using Single-Molecule Sequencing

Abstract

Acute Myeloid Leukemia (AML) is a genetically heterogeneous disease, associated with mutations in a well-established set of genes that affect myeloid cell differentiation and proliferation. While treatment options were limited for many decades, many new pharmacological treatments in the form of small molecule inhibitors have been developed in recent years. In order to be effective, many of these inhibitors require the presence of specific biomarkers that must be detected with appropriate genetic screening assays. Genetic studies may also inform conventional care plans. The cost and time of genetic testing can be limiting factor, delaying the start of treatment and often requiring referral to larger regional medical center. Such delays can result in increased morbidities and mortality in this patient population, making faster and more accessible genetic testing highly relevant.

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Rapid Molecular Diagnostics for Acute Myeloid Leukemia Using Single-Molecule Sequencing
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