Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Procedure: lungMass-analysis1

Generated Narrative: Procedure

Resource Procedure "lungMass-analysis1"

Profile: Genomic Study Analysis

Genomic Study Analysis Method Type: Sequence analysis of the entire coding region (Genomic Study Method Type CodeSystem#sequence-analysis-of-the-entire-coding-region)

Genomic Study Analysis Change Type: SNV (sequenceontology.org#SO:0001483)

Genomic Study Analysis Change Type: MNV (sequenceontology.org#SO:0002007)

Genomic Study Analysis Change Type: delins (sequenceontology.org#SO:1000032)

Genomic Study Analysis Genome Build: GRCh38 (LOINC#LA26806-2)

Genomic Study Analysis Specimen: Specimen/genomicSpecimen

Genomic Study Analysis Focus: Patient/genomicPatient " DOE"

Genomic Study Analysis Device

url

device

value: Device/triodenovo-software

Genomic Study Analysis Regions

url

studied

value: DocumentReference/WES-FullSequencedRegion-GRCh38

url

uncalled

value: DocumentReference/UncallableRegions

url

called

value: DocumentReference/SimpleVariantAnalysis-called

Genomic Study Analysis Output

url

type

value: VCF (Genomic Study Data Format CodeSystem#vcf)

url

file

value: DocumentReference/genomicVCFfile-simple

instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/

status: completed

category: Laboratory (Observation Category Codes#laboratory)

subject: Patient/genomicPatient " DOE"

performed: 2019-03-01 01:01:10-0600

Performers

-FunctionActor
*Performer (ParticipationType#PRF)Practitioner/practitioner02 " DOEL"

note: For technical reasons, PIK3CB was deemed uncallable using this method.