In vitro diagnostic Next Generation Sequencing (NGS) workflows - Human DNA examination
In vitro diagnostic Next Generation Sequencing (NGS) workflows - Human DNA examination
1 Scope This document specifies requirements and gives recommendations for next generation sequencing ( NGS ) workflows for in vitro diagnostics and biomedical research. This document covers the pre-examination processes , human DNA (somatic and germline) isolation, sequencing library preparation, sequencing, sequence analysis and reporting of the examination of sequences for diagnostic purposes from isolated DNA from, e.g. formalin -fixed and paraffin embedded tissues, fresh frozen tissues, fine needle aspirates ( FNA ), whole blood, circulating tumour cells (CTCs), exosomes and other extracellular vesicles , circulating cell free DNA from plasma, and DNA from saliva.
NOTE 1 Typical applications include, but are not limited to, NGS for oncology, pharmacogenomics and clinical genetics; approaches include panels (e.g. disease panels , exome panels , target gene panels and in silico panels ), exome and whole genome sequencing, as well as certain epigenetics and certain single-cell analyses.
This document is applicable to molecular in vitro diagnostic examinations including laboratory developed tests perfo...
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