Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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 Observation: ExampleGermlineCNV

Generated Narrative: Observation

ResourceObservation "ExampleGermlineCNV"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

component

code: DNA change type (LOINC#48019-4)

value: copy_number_variation (sequenceontology.org#SO:0001019)

component

code: Genomic ref allele [ID] (LOINC#69547-8)

value: T

component

code: Genomic source class [Type] (LOINC#48002-0)

value: Germline (LOINC#LA6683-2)

component

code: Genomic reference sequence [ID] (LOINC#48013-7)

value: NC_000022.10 (Gene Reference Sequence Collection#NC_000022.10)

component

code: Genomic structural variant copy number (LOINC#82155-3)

value: 3 1 (Details: UCUM code 1 = '1')

component

code: Genomic coordinate system [Type] (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Structural variant inner start and end (LOINC#81302-2)

value: 42523949-42533891

component

code: Origin of germline genetic variant [Type] (LOINC#94186-4)

value: Maternal (LOINC#LA26320-4)

component

code: Basis for allelic phase [Type] (LOINC#82309-6)

value: Directly measured (LOINC#LA26426-9)