This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Table of Contents

..0 Table of Contents
...1 IG Home Page
....1.1 Genomics Background
....1.2 General Genomic Reporting
....1.3 Variant Reporting
....1.4 Cytogenomic Reporting
....1.5 Pharmacogenomic Reporting
....1.6 Somatic Reporting
....1.7 Histocompatibility and Immunogenetics Reporting
....1.8 Conversion from STU3
....1.9 Appendix A: Relation to v2 reporting
....1.10 Appendix B: Clinical Genomic Apps
....1.11 Appendix C: Querying Genomics Information
...2 Artifact List
....2.1 Genetic Observation Common Properties
....2.2 Genomics Report
....2.3 Specimen
....2.4 Recomended Followup
....2.5 Request for Genetics Test
....2.6 Genomics Panel
....2.7 Genomic analysis overall interpretation
....2.8 Deletion-duplication overall interpretation
....2.9 Computable Genetic Finding
....2.10 Haplotype
....2.11 Genotype
....2.12 Cytogenetic Nomenclature
....2.13 Complex Variant
....2.14 Described Variant
....2.15 Sequence Phase Relationship
....2.16 Genetic Impact
....2.17 Inherited Disease Pathogenicity
....2.18 Region Studied
....2.19 Copy Number Change
....2.20 Device Microarray Platform
....2.21 Device FISH Probe
....2.22 Medication Impact
....2.23 Medication Metabolism Impact
....2.24 Medication Transporter Impact
....2.25 Medication Efficacy Impact
....2.26 High Risk Allele
....2.27 Medication Usage Implication
....2.28 Current Medication
....2.29 Somatic Impact
....2.30 Somatic Diagnostic Impact
....2.31 Somatic Prognostic Impact
....2.32 Somatic Predictive Impact
....2.33 Related Artifact
....2.34 Recommended Action - DiagnosticReport
....2.35 Supporting Information
....2.36 Focus
....2.37 Recommended Action - Observation
....2.38 Example - Genomics Reporting
....2.39 Example - Pharmacogenomics
....2.40 Example - Full Bundle HLA genotyping for HLA-A, HLA-B, and HLA-C, using GLStrings
....2.41 Example - HLA genotyping for HLA-A, HLA-B, and HLA-C, using GLStrings
....2.42 Example - HLA genotyping for HLA-A, using GLStrings
....2.43 Example - Observation for a single HLA-A allele
....2.44 Example - Buccal swab for HLA typing
....2.45 Example - Service request for high-resolution HLA-A genotyping
...3 HL7 Domain Analysis Use Cases