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 |
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 |
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 |
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 |
reasonCode |
coding |
system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
code : diagnostic |
display : Diagnostic |
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 : Observation/Observation-DiseaseStatus-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" }, "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" } ] } } ], "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" } ] } ], "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" }, "reasonCode": [ { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", "code": "diagnostic", "display": "Diagnostic" } ] } ], "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": "Observation/Observation-DiseaseStatus-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" /> </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> <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> <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> <reasonCode> <coding> <system value="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" /> <code value="diagnostic" /> <display value="Diagnostic" /> </coding> </reasonCode> <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="Observation/Observation-DiseaseStatus-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>