This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v4.0.0-ballot: STU4 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions

Genomics Examples

Diagnostic Implications

• Loss of function - BAP1
• Clinical Significance of VUS - POF1B
• Clinical Significance of VUS - POLRMT

Genomics Data Bundle

• Patient bundle containing genomics test data and related resources

Genomics Report

• Genomics Report

Genomic Variants

• Absence of a notable variants - KIT and BRAF
• Genomic Variant - BAP1
• Genomic Variant - CDKN2A
• Genomic Variant - CDKN2B
• Genomic Variant - KDM5D
• Genomic Variant - MTAP
• Genomic Variant - MYCN
• Genomic Variant - POF1B
• Genomic Variant - POLRMT
• Genomic Variant gene fusion event

Microsatellite Instability

• Microsatellite Instability

Specimens for Genomic Testing

• Germline specimen for tumor normal test
• Tumor specimen for tumor normal test

Organization

• Example organization

Patient

• Patient for genomics examples

Practitioner

• Interpreter of the next-generation sequencing (NGS) test

Service Request

• Order for tumor-normal test

Therapeutic Implications

• Therapeutic Implications-alectinib
• Therapeutic Implications-brigatinib
• Therapeutic Implications-ceritinib
• Therapeutic Implications-crizotinib
• Therapeutic Implications-lorlatinib

Tumor Mutation Burden

• Tumor Mutation Burden