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BSI PD ISO/TS 22693:2021

BSI PD ISO/TS 22693:2021

$142.49

Genomics informatics. Structured clinical gene fusion report in electronic health records

Published By Publication Date Number of Pages
BSI 2021 30
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The document defines the data elements and their necessary metadata to implement a structured clinical gene fusion report whose data are generated by next generation sequencing technologies.

This document

  1. describes the reporting guideline for RNA sequencing approaches focusing on detecting novel and known fusion partners,

  2. defines the required data fields and their metadata for a structured clinical gene fusion report,

  3. defines the optional data fields and their metadata,

  4. covers the fusion gene from human specimen using whole transcriptome sequencing by next generation sequencing technologies for clinical practice and translational research,

  5. does not cover the fusion gene detection using DNA sequencing methods,

  6. does not cover the basic research and other scientific areas,

  7. does not cover the other biological species,

— does not cover the Sanger sequencing methods, and

  1. does not cover the other structural variations.

This document only defines the data elements and their metadata for the structured clinical sequencing report in electronic health records. Therefore, its layout can be designed based on the institutional decision if all elements are included as in this document.

PDF Catalog

PDF Pages PDF Title
2 undefined
7 Foreword
8 Introduction
9 1 Scope
2 Normative references
10 3 Terms and definitions
12 4 Abbreviated terms
5 Gene fusion
13 6 Composition of clinical gene fusion report
6.1 General
6.2 Summary section
6.3 Detailed section
7 Fields and their nomenclature of required data
7.1 General
14 7.2 Clinical sequencing order
7.2.1 General
15 7.2.2 Clinical sequencing order code
7.2.3 Date and time
7.3 Information on subject of care
7.3.1 General
16 7.3.2 Subject of care identifier
7.3.3 Subject of care name
7.3.4 Subject of care birth date
7.3.5 Subject of care sex
7.3.6 Subject of care ancestry
7.3.7 Referring diagnosis
7.4 Information on legally authorized person ordering clinical sequencing
7.4.1 General
7.5 Performing laboratory
7.5.1 General
17 7.5.2 Basic information on performing laboratory
7.5.3 Information on report generator
7.5.4 Information of legally confirmed person on sequencing report
7.6 Biospecimen information
7.6.1 General
7.6.2 Type of specimen
7.7 Fusion gene information
7.7.1 General
7.7.2 Gene and its partner gene information
7.7.3 Chromosome information
7.7.4 Breakpoints information
7.8 Classification of variants
18 7.9 Recommend treatment
7.9.1 General
7.9.2 Medication
7.9.3 Clinical trial information
7.9.4 Other recommendation
7.9.5 Supporting information
19 8 Fields and their nomenclature of optional data
8.1 General
8.2 Associated disease and phenotypes
20 8.3 Reference genome version
8.4 Genomic information related to race
8.5 Fusion gene information
8.5.1 Fusion gene ID
21 8.5.2 HGVS version
8.5.3 Fusion transcript image
8.5.4 Read counts for evidence reads (or supporting reads)
22 8.5.5 Count of total fusion events
8.5.6 Type of fusion
8.5.7 Validation using standard method (RT-PCR)
8.6 Detailed sequencing information
8.6.1 Clinical sequencing date
8.6.2 Quality control metrics
8.6.3 Sequencing platform information
23 8.6.4 Analysis platform information
8.7 References
24 Annex A (informative) Example structure of clinical sequencing report
29 Bibliography

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BSI PD ISO/TS 22693:2021
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