Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example DiagnosticReport: PGxGenomicsReportEMERGE

emerge-seq-ngs-pnl (Genetics)

SubjectAdam B. Everyman male, DoB: 1951-01-20 ( Medical Record Number: m123 (USUAL))
When For2020-01-01 12:00:00-0500
Reported2020-01-01 12:00:00-0500

Report Details

CodeValueNoteWhen For
Therapeutic Implication
Therapeutic Implication
Therapeutic Implication
Therapeutic Implication
Therapeutic Implication
Therapeutic Implication
Genotype display nameCYP2C19*2/*22020-01-01
Genotype display nameVKORC1 rs9923231 C/T2020-01-01
Genotype display nameCYP2C9*1/*12020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresentThis variant was confirmed with SANGER sequencing2020-01-01
Genetic variant assessmentPresentThis variant was confirmed with SANGER sequencing2020-01-01
Genetic variant assessmentPresentThis variant was confirmed with SANGER sequencing2020-01-01
DNA region of interest panel
DNA region of interest panel
DNA region of interest panel
Discrete variation analysis overall interpretationPositive