Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-10-09T09:15:00Z |
| profile : http://hl7.eu/fhir/laboratory/StructureDefinition/ServiceRequest-eu-lab |
| profile : https://fhir.hl7.org.uk/StructureDefinition/UKCore-ServiceRequest |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| identifier |
| system : https://fhir.nhs.uk/Id/GMSOrder |
| value : RR8F1792 |
| requisition |
| assigner |
| identifier |
| system : https://fhir.leedsth.nhs.uk/Id/grouptestId |
| value : RR8F1792 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-wgs |
| display : Rare Disease - WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R98.2 |
| display : Likely inborn error of metabolism |
| version : 7 |
| text : This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307539 |
| authoredOn : 2023-09-15T15:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-EugeneSmith-Example |
| reasonReference |
| reference : Condition/Condition-InbornErrorOfMetabolism-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : R0A |
| supportingInfo |
| reference : Observation/Observation-AutisticBehaviour-Example |
| supportingInfo |
| reference : Observation/Observation-DelayedSpeechLanguageDevt-Example |
| supportingInfo |
| reference : Observation/Observation-DiseasePenetrancePheobeSmitham-Example |
| supportingInfo |
| reference : Observation/Observation-IntellectualDisabilityProfound-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnionProband-Example |
| supportingInfo |
| reference : Specimen/Specimen-PheobeSmitham-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Patient/Patient-PheobeSmithamMother-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-AliceSmithamProbandMother-Example |
| supportingInfo |
| reference : Specimen/Specimen-PheobeSmithamMother-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnionMother-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusionProbandMother-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplantProbandMother-Example |
| supportingInfo |
| reference : Patient/Patient-PheobeSmithamFather-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-JamesLawrenceProbandFather-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnionProbandFather-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusionProbandFather-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplantProbandFather-Example |
| supportingInfo |
| reference : Observation/Observation-IntellectualDisabilityMild-Example |
| supportingInfo |
| reference : Consent/Consent-RoD-PheobeSmitham-Example |
| supportingInfo |
| reference : Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example |
| supportingInfo |
| reference : Consent/Consent-RoD-PheobeSmithamMother-Example |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example |
| supportingInfo |
| reference : Consent/Consent-RoD-PheobeSmithamFather-Example |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamFather-Example |
| supportingInfo |
| reference : Specimen/Specimen-PheobeSmithamFather-Example |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT. |
{
"resourceType": "ServiceRequest",
"id": "ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example",
"meta": {
"versionId": "2",
"lastUpdated": "2023-10-09T09:15:00Z",
"profile": [
"http://hl7.eu/fhir/laboratory/StructureDefinition/ServiceRequest-eu-lab",
"https://fhir.hl7.org.uk/StructureDefinition/UKCore-ServiceRequest"
]
},
"extension": [
{
"url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
"valueCodeableConcept": {
"coding": [
{
"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
"code": "nhs-england",
"display": "NHS England"
}
]
}
}
],
"identifier": [
{
"system": "https://fhir.nhs.uk/Id/GMSOrder",
"value": "RR8F1792"
}
],
"requisition": {
"assigner": {
"identifier": {
"system": "https://fhir.leedsth.nhs.uk/Id/grouptestId",
"value": "RR8F1792"
}
}
},
"status": "active",
"intent": "order",
"category": [
{
"coding": [
{
"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
"code": "rare-disease-wgs",
"display": "Rare Disease - WGS"
}
]
},
{
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
"code": "diagnostic",
"display": "Diagnostic"
}
]
}
],
"priority": "routine",
"code": {
"coding": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code": "R98.2",
"display": "Likely inborn error of metabolism",
"version": "7"
}
],
"text": "This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s"
},
"subject": {
"reference": "Patient/Patient-PheobeSmitham-Example",
"identifier": {
"system": "https://fhir.nhs.uk/Id/nhs-number",
"value": "9449307539"
}
},
"authoredOn": "2023-09-15T15:00:00Z",
"requester": {
"reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example"
},
"reasonReference": [
{
"reference": "Condition/Condition-InbornErrorOfMetabolism-Example"
}
],
"performer": [
{
"identifier": {
"system": "https://fhir.nhs.uk/Id/ods-organization-code",
"value": "R0A"
}
}
],
"supportingInfo": [
{
"reference": "Observation/Observation-AutisticBehaviour-Example"
},
{
"reference": "Observation/Observation-DelayedSpeechLanguageDevt-Example"
},
{
"reference": "Observation/Observation-DiseasePenetrancePheobeSmitham-Example"
},
{
"reference": "Observation/Observation-IntellectualDisabilityProfound-Example"
},
{
"reference": "Observation/Observation-NonConsanguinousUnionProband-Example"
},
{
"reference": "Specimen/Specimen-PheobeSmitham-Example"
},
{
"reference": "Observation/Observation-GenomicEthnicity-Example"
},
{
"reference": "Observation/Observation-NoPregnancy-Example"
},
{
"reference": "Condition/Condition-MonogenicHearingLoss-Example"
},
{
"reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
},
{
"reference": "Observation/Observation-NoTransfusion-Example"
},
{
"reference": "Patient/Patient-PheobeSmithamMother-Example"
},
{
"reference": "RelatedPerson/RelatedPerson-AliceSmithamProbandMother-Example"
},
{
"reference": "Specimen/Specimen-PheobeSmithamMother-Example"
},
{
"reference": "Observation/Observation-NonConsanguinousUnionMother-Example"
},
{
"reference": "Observation/Observation-NoTransfusionProbandMother-Example"
},
{
"reference": "Observation/Observation-NoBoneMarrowTransplantProbandMother-Example"
},
{
"reference": "Patient/Patient-PheobeSmithamFather-Example"
},
{
"reference": "RelatedPerson/RelatedPerson-JamesLawrenceProbandFather-Example"
},
{
"reference": "Observation/Observation-NonConsanguinousUnionProbandFather-Example"
},
{
"reference": "Observation/Observation-NoTransfusionProbandFather-Example"
},
{
"reference": "Observation/Observation-NoBoneMarrowTransplantProbandFather-Example"
},
{
"reference": "Observation/Observation-IntellectualDisabilityMild-Example"
},
{
"reference": "Consent/Consent-RoD-PheobeSmitham-Example"
},
{
"reference": "Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example"
},
{
"reference": "Consent/Consent-RoD-PheobeSmithamMother-Example"
},
{
"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
},
{
"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
},
{
"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example"
},
{
"reference": "Consent/Consent-RoD-PheobeSmithamFather-Example"
},
{
"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamFather-Example"
},
{
"reference": "Specimen/Specimen-PheobeSmithamFather-Example"
}
],
"note": [
{
"text": "No family history of genomic testing"
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT."
}
]
}
<ServiceRequest xmlns="http://hl7.org/fhir">
<id value="ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example" />
<meta>
<versionId value="2" />
<lastUpdated value="2023-10-09T09:15:00Z" />
<profile value="http://hl7.eu/fhir/laboratory/StructureDefinition/ServiceRequest-eu-lab" />
<profile value="https://fhir.hl7.org.uk/StructureDefinition/UKCore-ServiceRequest" />
</meta>
<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-england" />
<display value="NHS England" />
</coding>
</valueCodeableConcept>
</extension>
<identifier>
<system value="https://fhir.nhs.uk/Id/GMSOrder" />
<value value="RR8F1792" />
</identifier>
<requisition>
<assigner>
<identifier>
<system value="https://fhir.leedsth.nhs.uk/Id/grouptestId" />
<value value="RR8F1792" />
</identifier>
</assigner>
</requisition>
<status value="active" />
<intent value="order" />
<category>
<coding>
<system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" />
<code value="rare-disease-wgs" />
<display value="Rare Disease - WGS" />
</coding>
</category>
<category>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" />
<code value="diagnostic" />
<display value="Diagnostic" />
</coding>
</category>
<priority value="routine" />
<code>
<coding>
<system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
<version value="7" />
<code value="R98.2" />
<display value="Likely inborn error of metabolism" />
</coding>
<text value="This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s" />
</code>
<subject>
<reference value="Patient/Patient-PheobeSmitham-Example" />
<identifier>
<system value="https://fhir.nhs.uk/Id/nhs-number" />
<value value="9449307539" />
</identifier>
</subject>
<authoredOn value="2023-09-15T15:00:00Z" />
<requester>
<reference value="PractitionerRole/PractitionerRole-EugeneSmith-Example" />
</requester>
<performer>
<identifier>
<system value="https://fhir.nhs.uk/Id/ods-organization-code" />
<value value="R0A" />
</identifier>
</performer>
<reasonReference>
<reference value="Condition/Condition-InbornErrorOfMetabolism-Example" />
</reasonReference>
<supportingInfo>
<reference value="Observation/Observation-AutisticBehaviour-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-DelayedSpeechLanguageDevt-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-DiseasePenetrancePheobeSmitham-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-IntellectualDisabilityProfound-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NonConsanguinousUnionProband-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Specimen/Specimen-PheobeSmitham-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-GenomicEthnicity-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoPregnancy-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Condition/Condition-MonogenicHearingLoss-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoBoneMarrowTransplant-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoTransfusion-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Patient/Patient-PheobeSmithamMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="RelatedPerson/RelatedPerson-AliceSmithamProbandMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Specimen/Specimen-PheobeSmithamMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NonConsanguinousUnionMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoTransfusionProbandMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoBoneMarrowTransplantProbandMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Patient/Patient-PheobeSmithamFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="RelatedPerson/RelatedPerson-JamesLawrenceProbandFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NonConsanguinousUnionProbandFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoTransfusionProbandFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-NoBoneMarrowTransplantProbandFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Observation/Observation-IntellectualDisabilityMild-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Consent/Consent-RoD-PheobeSmitham-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Consent/Consent-RoD-PheobeSmithamMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example" />
</supportingInfo>
<supportingInfo>
<reference value="QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example" />
</supportingInfo>
<supportingInfo>
<reference value="QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Consent/Consent-RoD-PheobeSmithamFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamFather-Example" />
</supportingInfo>
<supportingInfo>
<reference value="Specimen/Specimen-PheobeSmithamFather-Example" />
</supportingInfo>
<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/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT." />
</note>
</ServiceRequest>