Literature DB >> 31182318

Pitfalls in molecular diagnostics.

Lulu Sun1, John D Pfeifer2.   

Abstract

Molecular diagnostic techniques are part of the ancillary arsenal of anatomic pathologists. Advances in technology and knowledge regarding disease pathogenesis, tumorigenesis, and immune function contribute to the development of these assays. However, each technique, if applied incorrectly or in ignorance, can lead to difficulties in execution or errors in interpretation. In this review of commonly used molecular diagnostic tests, including immunohistochemistry, microsatellite instability testing, chromosomal microarray testing, and conventional and next-generation sequencing, the emphasis will be on potential pitfalls and considerations for each platform. Emerging technologies that may be used in clinical applications in the near future will also be discussed. An understanding of the methodologies, advantages, and drawbacks of molecular assays will help pathologists aid in diagnostic and therapeutic decisions.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Chromosomal microarray; Immunohistochemistry; Microsatellite instability; Molecular diagnostics; Next-generation sequencing

Mesh:

Year:  2019        PMID: 31182318     DOI: 10.1053/j.semdp.2019.06.002

Source DB:  PubMed          Journal:  Semin Diagn Pathol        ISSN: 0740-2570            Impact factor:   3.464


  1 in total

1.  Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.

Authors:  C Painous; N J H van Os; A Delamarre; I Michailoviene; M J Marti; B P van de Warrenburg; W G Meissner; A Utkus; C Reinhard; H Graessner; M A Tijssen
Journal:  Eur J Neurol       Date:  2020-06-19       Impact factor: 6.089

  1 in total

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