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BSI PD CEN/TS 17981-1:2023

BSI PD CEN/TS 17981-1:2023

$198.66

In vitro diagnostic Next Generation Sequencing (NGS) workflows – Human DNA examination

Published By Publication Date Number of Pages
BSI 2023 64
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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.

PDF Catalog

PDF Pages PDF Title
2 undefined
8 1 Scope
2 Normative references
9 3 Terms and definitions
21 4 General requirements
4.1 General
22 4.2 Examination design
26 4.3 Examination development
4.4 Examination performance verification and validation
32 4.5 Technical examination performance characteristics
5 Pre-examination processes for examination development
5.1 General
34 5.2 Human DNA isolation
5.2.1 General
5.2.2 Isolation from formalin fixed and paraffin embedded (FFPE) tissue
5.2.3 Isolation from fresh frozen tissue
5.2.4 Isolation from fine needle aspirates (FNA)
5.2.5 Isolation from whole blood
5.2.5.1 Venous whole blood
5.2.5.2 Circulating tumour cells (CTCs)
5.2.5.3 Extracellular vesicles (EVs)
35 5.2.6 Isolation of circulating cell free DNA from plasma
5.2.7 Isolation of DNA from saliva
5.2.8 Isolation of cfDNA from other body fluids
5.3 DNA sample quality and quantity evaluation
37 6 Examination processes for examination development
6.1 Sequencing library preparation for examination development
6.1.1 General
6.1.2 Sequencing library preparation steps
6.1.2.1 General
38 6.1.2.2 Fragmentation
6.1.2.3 Quality assessment of the fragmented DNA sample
6.1.2.4 End repair
6.1.2.5 Base modifications
6.1.2.6 Adaptor ligation
6.1.2.7 Barcoding/indexing
6.1.2.8 Size selection
39 6.1.2.9 Pre-/Amplification
6.1.2.10 Cleaning
6.1.2.11 Sequencing library quantification and qualification
40 6.1.3 Panels, exomes and whole genome sequencing
6.1.3.1 General
6.1.3.2 Capture techniques
41 6.1.3.3 Whole genome sequencing (WGS)
42 6.1.3.4 Extracellular vesicle (EV) panels
6.2 Sequencing examination development
6.2.1 General
6.2.2 Techniques
43 6.2.3 Sequencing quality control
6.3 Data analysis requirements for examination development
44 6.4 Quality control (QC) requirements for examination development
45 7 Requirements for the development of the examination reporting tool
7.1 General
46 7.2 Report attributes
7.3 Report content
47 8 Implementation of the in vitro diagnostic NGS workflow into routine practice
48 9 Reporting and interpretation of results
49 10 Quality assurance procedures
10.1 General
10.2 Performance monitoring, optimization of the examination and interlaboratory comparison
50 Annex A (normative)in vitro diagnostic NGS workflow for single-cell analyses
A.1 General information and requirements on single-cell analyses
51 A.2 Pre-examination processes for examination development
A.2.1 General information of applicable procedures
A.2.2 Requirements for CTCs from blood specimen collection to CTC isolation
A.2.3 Requirements for fresh frozen/FFPE human tissue from specimen collection to isolation of single cells
A.2.3.1 Collection to storage of the tissue specimen or sample
A.2.3.2 Dissociation of tissue sections into a cell suspension
52 A.2.3.3 Quality control of the single cell suspension
A.2.3.4 Storage of the single cell suspension
A.2.3.5 Enrichment of the cell suspension
53 A.2.3.6 Single-cell isolation
A.2.4 Human DNA isolation
54 A.2.5 DNA sample quality evaluation
A.2.6 Amplification
A.2.7 Quality control of the amplification
55 A.3 Examination phase for examination development
A.3.1 Sequencing library preparation for examination development for CTCs and single cells from tissues
A.3.2 Sequencing examination development for CTCs and single cells from tissues
A.3.2.1 General
A.3.2.2 Sequencing QC
A.3.3 Data analysis requirements for examination development for CTCs and single cells from tissues
56 A.3.4 QC requirements for examination development
A.4 Implementation of the in vitro diagnostic NGS workflow into routine practice
A.5 Reporting and interpretation of results
A.6 Quality assurance procedures
57 Annex B (informative)NGS workflow scheme for the examination of DNA

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BSI PD CEN/TS 17981-1:2023
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