This page is part of the FHIR Specification (v1.4.0: STU 3 Ballot 3). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
An example of a genetics test report with Family member history
{ "resourceType": "DiagnosticReport", "id": "dg2", "text": { "status": "generated", "div": "<div>\n \n \n <h3>Genetic test Report for Marry Chalmers (MRN: 12345) </h3>\n \n <pre>\n Gene DNAVariation Status Interpretation\n BRCA1 Negative\n BRCA2 185delAG Positive Pathogenic\n </pre>\n <p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n <p> Issued: 2015-05-26T15:30:10+01:00</p>\n <p> FamilyMemeberHistory: Mother </p>\n <pre>\n Gene DNAVariation Status\n BRCA2 185delAG Positive\n </pre>\n <p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n \n </div>" }, "contained": [ { "resourceType": "FamilyMemberHistory", "id": "f1-genetics", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation", "valueReference": { "reference": "DiagnosticReport/dgf1" } } ], "patient": { "reference": "Patient/example" }, "status": "completed", "relationship": { "coding": [ { "system": "http://hl7.org/fhir/familial-relationship", "code": "MTH", "display": "Mother" } ] } } ], "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsFamilyMemberHistory", "valueReference": { "reference": "#dg1" } } ], "status": "final", "category": { "coding": [ { "system": "http://snomed.info/sct", "code": "15220000", "display": "Laboratory test" }, { "system": "http://hl7.org/fhir/v2/0074", "code": "LAB" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "55233-1", "display": "Genetic analysis master panel" } ] }, "subject": { "reference": "Patient/example", "display": "Peter James Chalmers(MRN: 12345)" }, "effectiveDateTime": "2015-05-26T15:30:10+01:00", "issued": "2014-05-16T10:28:00+01:00", "performer": { "reference": "Practitioner/genetics-example2", "display": "Molecular Diagnostic Laboratory" }, "specimen": [ { "reference": "Specimen/genetics-example2", "display": "Molecular Specimen ID: MLD45-Z4-1234" } ], "result": [ { "reference": "Observation/ob-genetics-3-1", "display": "Genetic analysis for BRAC -1" }, { "reference": "Observation/ob-genetics-3-2", "display": "Genetic analysis for BRAC -2" } ] }
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.