Genomicstudy-example-lungMass - FHIR v6.0.0-ballot2

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Example GenomicStudy/example-lungMass (Narrative)

Clinical Genomics Work Group

Maturity Level: N/A

Standards Status: Informative

Compartments: Group, Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile GenomicStudy.

Generated Narrative: GenomicStudy example-lungMass

identifier: http://www.somesystemabc.net/identifiers/genomicstudies/urn:uuid:1111-1111-1111-1112 (use: temp, )

status: registered

type: Sequencing of entire coding region of gene (procedure)

subject: Patient/genomicPatient

encounter: Encounter/genomicEncounter

startDate: 2019-03-01

basedOn: ServiceRequest/genomicServiceRequest2

referrer: Practitioner/practitioner01

interpreter: Practitioner/practitioner02

Reasons

Concept

Lung mass (finding)

note: For technical reasons, PIK3CB was deemed uncallable.

description:

Whole exome sequencing of lung biopsy. 300 genes are examined for simple variants (SNV, MNV, InDel), and 170 genes are also examined for CNVs. For technical reasons, PIK3CB was deemed uncallable.

analysis
identifier: http://www.somesystemabc.net/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1112 (use: official, )
methodType: Nucleic acid sequencing (procedure)
changeType: SNV, MNV, delins
genomeBuild: GRCh38
title: Simple variant analysis
specimen: Specimen/genomicSpecimen
date: 2019-03-01T01:01:10-06:00
note: For technical reasons, PIK3CB was deemed uncallable using this method.
regionsStudied: DocumentReference/WES_FullSequencedRegion_GRCh38
regionsCalled: DocumentReference/SimpleVariantAnalysis_called
Outputs

- File Type

* DocumentReference/genomicVCFfile_simple VCF
Performers

- Actor Role

* Practitioner/practitioner02 Performer
Devices

- Device Function

* Device/NGS-device Next Generation Sequencing

analysis
identifier: http://www.somesystemabc.net/identifiers/genomicAnalyses/urn:uuid:1111-1111-1111-1115 (use: official, )
methodType: Nucleic acid sequencing (procedure)
changeType: CNV
genomeBuild: GRCh38
title: CNV analysis
specimen: Specimen/genomicSpecimen
date: 2019-03-01T01:01:10-06:00
note: For technical reasons, PIK3CB was deemed uncallable using this method.
regionsStudied: DocumentReference/WES_FullSequencedRegion_GRCh38
regionsCalled: DocumentReference/CNVAnalysis_called
Outputs

- File Type

* DocumentReference/genomicVCFfile_cnv VCF
Performers

- Actor Role

* Practitioner/practitioner02 Performer

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.