DiagnosticReport-PhoebeSmithGeneticReport-Example

Example of a DiagnosticReport with the minimal amount of information expected by the Genomic Medicine Service when returning unstructured reports back to a requester (NOTE: basedOn SHALL reference a ServiceRequest resource within the central broker). For Structured Reports, users SHOULD follow guidance provided within the HL7 Genomic Reporting Implementation Guide.

DiagnosticReport
{
    "resourceType": "DiagnosticReport",
    "id": "DiagnosticReport-PhoebeSmithGeneticReport-Example",
    "identifier":  [
        {
            "system": "https://mft.nhs.uk//nwglh/lims",
            "value": "SLC52A2_GenomicReport",
            "assigner": {
                "identifier": {
                    "system": "https://fhir.nhs.uk/Id/ods-organization-code",
                    "value": "R0A"
                }
            }
        }
    ],
    "basedOn":  [
        {
            "reference": "ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example"
        }
    ],
    "status": "final",
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
                    "code": "GE",
                    "display": "Genetics"
                }
            ]
        }
    ],
    "code": {
        "coding":  [
            {
                "system": "http://snomed.info/sct",
                "code": "1054161000000101",
                "display": "Genetic report"
            }
        ]
    },
    "subject": {
        "reference": "Patient/Patient-PheobeSmitham-Example"
    },
    "issued": "2023-10-16T15:50:00Z",
    "performer":  [
        {
            "identifier": {
                "system": "https://fhir.nhs.uk/Id/ods-organization-code",
                "value": "R0A"
            }
        }
    ],
    "specimen":  [
        {
            "reference": "Specimen/Specimen-PheobeSmitham-Example"
        },
        {
            "reference": "Specimen/Specimen-PheobeSmithamFather-Example"
        },
        {
            "reference": "Specimen/Specimen-PheobeSmithamMother-Example"
        }
    ],
    "conclusionCode":  [
        {
            "coding":  [
                {
                    "system": "http://snomed.info/sct",
                    "code": "699866005",
                    "display": "Brown-Vialetto-Van Laere syndrome"
                }
            ],
            "text": "Brown-Vialetto-Van Laere syndrome 2"
        }
    ],
    "presentedForm":  [
        {
            "contentType": "application/pdf",
            "language": "en-GB",
            "url": "https://cts5j3.axshare.com/?id=mhxwul&p=final_report_issued_test_complete&g=1",
            "size": 43272,
            "title": "Genomic Report for Pheobe Smitham",
            "creation": "2023-10-16"
        }
    ]
}
<DiagnosticReport xmlns="http://hl7.org/fhir">
    <id value="DiagnosticReport-PhoebeSmithGeneticReport-Example" />
    <identifier>
        <system value="https://mft.nhs.uk//nwglh/lims" />
        <value value="SLC52A2_GenomicReport" />
        <assigner>
            <identifier>
                <system value="https://fhir.nhs.uk/Id/ods-organization-code" />
                <value value="R0A" />
            </identifier>
        </assigner>
    </identifier>
    <basedOn>
        <reference value="ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example" />
    </basedOn>
    <status value="final" />
    <category>
        <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v2-0074" />
            <code value="GE" />
            <display value="Genetics" />
        </coding>
    </category>
    <code>
        <coding>
            <system value="http://snomed.info/sct" />
            <code value="1054161000000101" />
            <display value="Genetic report" />
        </coding>
    </code>
    <subject>
        <reference value="Patient/Patient-PheobeSmitham-Example" />
    </subject>
    <issued value="2023-10-16T15:50:00Z" />
    <performer>
        <identifier>
            <system value="https://fhir.nhs.uk/Id/ods-organization-code" />
            <value value="R0A" />
        </identifier>
    </performer>
    <specimen>
        <reference value="Specimen/Specimen-PheobeSmitham-Example" />
    </specimen>
    <specimen>
        <reference value="Specimen/Specimen-PheobeSmithamFather-Example" />
    </specimen>
    <specimen>
        <reference value="Specimen/Specimen-PheobeSmithamMother-Example" />
    </specimen>
    <conclusionCode>
        <coding>
            <system value="http://snomed.info/sct" />
            <code value="699866005" />
            <display value="Brown-Vialetto-Van Laere syndrome" />
        </coding>
        <text value="Brown-Vialetto-Van Laere syndrome 2" />
    </conclusionCode>
    <presentedForm>
        <contentType value="application/pdf" />
        <language value="en-GB" />
        <url value="https://cts5j3.axshare.com/?id=mhxwul&amp;p=final_report_issued_test_complete&amp;g=1" />
        <size value="43272" />
        <title value="Genomic Report for Pheobe Smitham" />
        <creation value="2023-10-16" />
    </presentedForm>
</DiagnosticReport>