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Int J Lab Hematol. 2019 May;41 Suppl 1:102-116. doi: 10.1111/ijlh.13024.

Molecular genetic testing methodologies in hematopoietic diseases: current and future methods.

Author information

1
Department of Pathology, Stanford University, Stanford, California.
2
Department of Pathology, University of California, San Francisco, CA.

Abstract

INTRODUCTION:

Rapid technological advancements in clinical molecular genetics have increased our diagnostic and prognostic capabilities in health care. Understanding these assays, as well as how they may change over time, is critical for pathologists, clinicians, and translational researchers alike.

METHODS:

This review provides a practical summary and basic reference for current molecular genetic technologies, as well as new testing methodologies that are in use, gaining momentum, or anticipated to contribute more broadly in the future.

RESULTS:

Here, we discuss DNA and RNA based methodologies including classic assays such as the polymerase chain reaction (PCR), Sanger sequencing, and microarrays, to more cutting-edge next-generation sequencing (NGS) based assays and emerging molecular technologies such as cell-free DNA (cfDNA) or circulating tumor DNA (ctDNA), and NGS-based detection of infectious disease organisms.

CONCLUSION:

This review serves as a basic foundation for knowledge in current and emerging clinical molecular genetic technologies.

KEYWORDS:

NGS ; PCR ; molecular pathology; next-generation sequencing; third-generation sequencing

PMID:
31069972
DOI:
10.1111/ijlh.13024

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