ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example

Example of a ServiceRequest, submitted to request variant reinterpretation. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.

ServiceRequest
{
    "resourceType": "ServiceRequest",
    "id": "ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example",
    "basedOn":  [
        {
            "reference": "ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example"
        }
    ],
    "extension":  [
        {
            "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
                        "code": "nhs",
                        "display": "NHS"
                    }
                ]
            }
        }
    ],
    "status": "active",
    "intent": "order",
    "category":  [
        {
            "coding":  [
                {
                    "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
                    "code": "rare-disease-non-wgs"
                }
            ]
        }
    ],
    "priority": "routine",
    "code": {
        "coding":  [
            {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R442",
                "display": "Variant Re-interpretation"
            }
        ]
    },
    "orderDetail":  [
        {
            "coding":  [
                {
                    "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                    "code": "R59",
                    "display": "Early onset or syndromic epilepsy"
                }
            ]
        }
    ],
    "subject": {
        "reference": "Patient/Patient-SalimaPomfrets-Example",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "8449303444"
        }
    },
    "authoredOn": "2023-10-01T10:08:00Z",
    "requester": {
        "reference": "PractitionerRole/PractitionerRole-GeneSmith-Example"
    },
    "reasonCode":  [
        {
            "coding":  [
                {
                    "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                    "code": "261004008",
                    "display": "Diagnostic"
                }
            ]
        }
    ],
    "supportingInfo":  [
        {
            "reference": "Observation/Observation-GenomicEthnicity-Example"
        },
        {
            "reference": "Observation/Observation-DiseaseStatus-Example"
        },
        {
            "reference": "Observation/Observation-NoPregnancy-Example"
        },
        {
            "reference": "Observation/Observation-NonConsanguinousUnion-Example"
        },
        {
            "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example"
        },
        {
            "reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
        },
        {
            "reference": "Observation/Observation-NoTransfusion-Example"
        }
    ],
    "note":  [
        {
            "text": "No sample required."
        },
        {
            "text": "No family history of genomic testing"
        },
        {
            "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ For example: new evidence available that will likely change the classification of the variant- identification of additional patient(s) with the same genetic variant"
        }
    ]
}
<ServiceRequest xmlns="http://hl7.org/fhir">
    <id value="ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example" />
    <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage">
        <valueCodeableConcept>
            <coding>
                <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" />
                <code value="nhs" />
                <display value="NHS" />
            </coding>
        </valueCodeableConcept>
    </extension>
    <basedOn>
        <reference value="ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example" />
    </basedOn>
    <status value="active" />
    <intent value="order" />
    <category>
        <coding>
            <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" />
            <code value="rare-disease-non-wgs" />
        </coding>
    </category>
    <priority value="routine" />
    <code>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
            <code value="R442" />
            <display value="Variant Re-interpretation" />
        </coding>
    </code>
    <orderDetail>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
            <code value="R59" />
            <display value="Early onset or syndromic epilepsy" />
        </coding>
    </orderDetail>
    <subject>
        <reference value="Patient/Patient-SalimaPomfrets-Example" />
        <identifier>
            <system value="https://fhir.nhs.uk/Id/nhs-number" />
            <value value="8449303444" />
        </identifier>
    </subject>
    <authoredOn value="2023-10-01T10:08:00Z" />
    <requester>
        <reference value="PractitionerRole/PractitionerRole-GeneSmith-Example" />
    </requester>
    <reasonCode>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
            <code value="261004008" />
            <display value="Diagnostic" />
        </coding>
    </reasonCode>
    <supportingInfo>
        <reference value="Observation/Observation-GenomicEthnicity-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-DiseaseStatus-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoPregnancy-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NonConsanguinousUnion-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoTransfusion-Example" />
    </supportingInfo>
    <note>
        <text value="No sample required." />
    </note>
    <note>
        <text value="No family history of genomic testing" />
    </note>
    <note>
        <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ For example: new evidence available that will likely change the classification of the variant- identification of additional patient(s) with the same genetic variant" />
    </note>
</ServiceRequest>