Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## Example Procedure: lungMass

Page standards status: Informative

Profile: Genomic Study

Genomic Study Analysis Extension: Procedure: extension = Sequence analysis of the entire coding region,Somatic,SNV,MNV,delins,GRCh38,->Specimen: identifier = http://example.org/identifiers/specimens#4; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2019-03-01 01:01:01+0000,->John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing))),,,; instantiatesUri = https://pubmed.ncbi.nlm.nih.gov/33927380/; status = completed; category = Laboratory; performed[x] = 2019-03-01 01:01:10-0600; note = For technical reasons, PIK3CB was deemed uncallable using this method.

Genomic Study Analysis Extension: Procedure: extension = Deletion/duplication analysis,Somatic,CNV,GRCh38,->Specimen: identifier = http://example.org/identifiers/specimens#4; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2019-03-01 01:01:01+0000,->John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing))),,; instantiatesUri = https://pubmed.ncbi.nlm.nih.gov/33927380/; status = completed; category = Laboratory; performed[x] = 2019-03-01 01:01:10-0600; note = For technical reasons, PIK3CB was deemed uncallable using this method.

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Completed

category: Laboratory

code: Solid tumor whole exome sequencing panel

subject: John Junior Doe (official) Unknown, DoB: 2001-01-01 ( Medical record number: 11117 (use: temp, period: 2021-01-01 --> (ongoing)))

performed: 2019-03-01

asserter: Practitioner Jane Doel

reasonCode: Lung mass (finding)

note:

> For technical reasons, PIK3CB was deemed uncallable.