PD CEN/TS 17981-1:2023 - Page 2

In vitro diagnostic Next Generation Sequencing (NGS) workflows. Human DNA examination | Status: Current

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 performed by medical laboratories, molecular pathology laboratories and molecular genetic laboratories. This document is also applicable to laboratory customers, in vitro diagnostics developers and manufacturers, biobanks, institutions, and organizations performing biomedical research. This document is not applicable for in situ sequencing, DNA-mediated protein sequencing, forensic sequencing, sequencing of pathogens or microorganisms and microbiome analysis.

NOTE 2 International, national or regional regulations or requirements or multiples of them can also apply to specific topics covered in this document.