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
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 |
| id : ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example |
| basedOn |
| reference : ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-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 : R442 |
| display : Variant Re-interpretation |
| version : 7 |
| orderDetail |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R59 |
| display : Early onset or syndromic epilepsy |
| version : 7 |
| orderDetail |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/types-of-reanalysistest-genomics |
| code : original-gene-panels |
| display : Original Gene Panels |
| 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 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| note |
| text : No sample required. |
| 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/ For example: new evidence available that will likely change the classification of the variant- identification of additional patient(s) with the same genetic variant |
{
],
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
{
{
}
]
},
{
{
}
]
}
],
}
},
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"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"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</basedOn>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</coding>
</orderDetail>
</coding>
</orderDetail>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
ServiceRequest-NonWGSTestOrderForm-Cancellation-Example
Example of a ServiceRequest, submitted to request a test cancellation. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-Cancellation-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R67.1 |
| display : Monogenic hearing loss |
| version : 7 |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-05T10:08:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-NatureAndAgeOfHearingLoss-Example |
| specimen |
| reference : Specimen/Specimen-BloodEDTA-Example |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : relapse |
| display : Relapse |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : M119.5 |
| display : Multi Target NGS Panel Small |
| version : 9 |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| supportingInfo |
| reference : Observation/Observation-Cellularity-Example |
| supportingInfo |
| reference : Observation/Observation-TumorType-Example |
| supportingInfo |
| reference : Observation/Observation-Necrosis-Example |
| supportingInfo |
| reference : Observation/Observation-NeoplasticCell-Example |
| supportingInfo |
| reference : Condition/Condition-LungTumor-Example |
| specimen |
| reference : Specimen/Specimen-SolidTumor-Example |
| note |
| text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management |
{
{
{
}
]
}
},
{
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
}
],
{
},
{
},
{
},
{
},
{
}
],
],
{
"text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
<text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example
Example of a ServiceRequest, submitted to request a cascade test. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example |
| basedOn |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : predictive |
| display : Predictive |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R134 |
| display : Familial Hypercholesterolaemia |
| version : 7 |
| subject |
| reference : Patient/Patient-FayMutlow-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307806 |
| authoredOn : 2023-10-04T11:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-MarySmith-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-DutchLipidScore-Example |
| supportingInfo |
| reference : Observation/Observation-QueryXanthoma-Example |
| supportingInfo |
| reference : Observation/Observation-SimonBroomeCriteria-Example |
| specimen |
| reference : Specimen/Specimen-BloodEDTA-WithCollectionDetails-Example |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms |
| note |
| text : Father tested positive for FH. Confirmation required if daughter is positive for FH |
{
],
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms"
},
{
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</basedOn>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" />
</note>
<text value="Father tested positive for FH. Confirmation required if daughter is positive for FH" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-DeceasedPatient-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-DeceasedPatient-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R138 |
| display : Sudden Cardiac Death |
| version : 7 |
| subject |
| reference : Patient/Patient-AnitaLambertsDeceasedPatient-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303649 |
| authoredOn : 2023-11-01T10:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmith-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| specimen |
| display : Blood EDTA Specimen to be provided later |
| 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. |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms."
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms." />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-Example
Example of a ServiceRequest. The scenario this is for is detailed on Non-WGS Test Request - Rare Disease
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-05 |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Condition/Condition-HearingLoss-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/Patient in need of test...example |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example
Example of a ServiceRequest for a foetus. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : staging-or-prognosis |
| display : Staging or Prognosis |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21 |
| display : Fetal anomalies with a likely genetic cause |
| version : 7 |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-25 |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-PregnancyConfirmation-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Procedure/Procedure-InVitroFertilisation-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulder-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Specimen/Specimen-BloodEDTA-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderSaliva-Example |
| note |
| text : Samples are to be provided at a later date |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example
Example of a ServiceRequest, submitted to request a follow-up test. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R187 |
| display : Cystic Fibrosis |
| version : 7 |
| subject |
| reference : Patient/Patient-AnitaLamberts-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303649 |
| authoredOn : 2023-11-01T10:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmith-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJ1 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| note |
| text : Specimen to be provided later |
| 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 / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
],
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-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 : M91 |
| display : Acute Lymphoblastic Leukaemia |
| version : 9 |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-09-03T10:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithPathology-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-BlastPercentage-Example |
| supportingInfo |
| reference : Observation/Observation-Bruising-Example |
| supportingInfo |
| reference : Observation/Observation-Haemoglobin-Example |
| supportingInfo |
| reference : Observation/Observation-Neutrophils-Example |
| supportingInfo |
| reference : Observation/Observation-NucleatedCellCount-Example |
| supportingInfo |
| reference : Observation/Observation-Platelets-Example |
| supportingInfo |
| reference : Observation/Observation-WhiteBloodCell-Example |
| supportingInfo |
| reference : Condition/Condition-Hepatosplenomegaly-Example |
| specimen |
| reference : Specimen/Specimen-BoneMarrowAspiration-Example |
| note |
| text : No Previous Relevant Test Report |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-HaemOncologyUpdated-Example
Example of an updated ServiceRequest (with additional version number and provenance history).
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-HaemOncologyUpdated-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-09-04T15:43:00Z |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-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 : M91.4 |
| display : Acute Lymphoblastic Leukaemia (FISH) |
| version : 9 |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-09-03T10:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RR8 |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-BlastPercentage-Example |
| supportingInfo |
| reference : Observation/Observation-Bruising-Example |
| supportingInfo |
| reference : Observation/Observation-Haemoglobin-Example |
| supportingInfo |
| reference : Observation/Observation-Neutrophils-Example |
| supportingInfo |
| reference : Observation/Observation-NucleatedCellCount-Example |
| supportingInfo |
| reference : Observation/Observation-Platelets-Example |
| supportingInfo |
| reference : Observation/Observation-WhiteBloodCell-Example |
| supportingInfo |
| reference : Condition/Condition-Hepatosplenomegaly-Example |
| specimen |
| reference : Specimen/Specimen-BoneMarrowAspiration-Example |
| note |
| text : M code modified to M91.4. Appropriate testing |
| note |
| text : No Previous Relevant Test Report |
{
},
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example
Example of a ServiceRequest requested as a follow-up to an existing test. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example |
| basedOn |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R65.1 |
| display : Aminoglycoside exposure posing risk to hearing |
| version : 7 |
| text : Follow Up Test requested to aid interpretation. M code modified to: R65.1 |
| subject |
| reference : Patient/Patient-AnitaLamberts-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303649 |
| authoredOn : 2023-11-10T10:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-AndrewSmith-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJ1 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| specimen |
| reference : Specimen/Specimen-BloodEDTA-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 / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus. Intital test ordered for Cystic Fibrosis. |
{
],
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
],
},
}
},
},
],
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus. Intital test ordered for Cystic Fibrosis."
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</basedOn>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus. Intital test ordered for Cystic Fibrosis." />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-OutOfCountry-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-OutOfCountry-Example |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLane-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-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 : M3.2 |
| display : Breast Cancer (Oncotype DX) |
| version : 9 |
| subject |
| reference : Patient/Patient-KayBurbridge-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303541 |
| authoredOn : 2023-11-01T11:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithOncology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RLU |
| display : BIRMINGHAM WOMEN'S NHS FOUNDATION TRUST |
| supportingInfo |
| reference : Observation/Observation-CellularityKayBurbridge-Example |
| supportingInfo |
| reference : Observation/Observation-TumorTypeKayKayBurbridge-Example |
| supportingInfo |
| reference : Observation/Observation-NecrosisKayBurbridge-Example |
| supportingInfo |
| reference : Observation/Observation-NeoplasticCellKayBurbridge-Example |
| supportingInfo |
| reference : Condition/Condition-BreastCancer-Example |
| specimen |
| reference : Specimen/Specimen-TissueResection-Example |
| note |
| text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. e.g. ER positive, HER2 negative. lymph node negative, early breast cancer. Use exisiting tissue sample sent to lab |
{
{
{
}
]
}
},
{
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
}
],
{
},
{
},
{
},
{
},
{
}
],
],
{
"text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. e.g. ER positive, HER2 negative. lymph node negative, early breast cancer. Use exisiting tissue sample sent to lab"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
<text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. e.g. ER positive, HER2 negative. lymph node negative, early breast cancer. Use exisiting tissue sample sent to lab" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example
Example of a ServiceRequest. submitted to request re-analysis of a previous test/order.. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-ReAnalysis-Example |
| basedOn |
| reference : ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : new-treatment-clinical-management |
| display : New Treatment/Clinical Management |
| text : Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R387 |
| display : Re-analysis |
| version : 7 |
| orderDetail |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R59 |
| display : Early onset or syndromic epilepsy |
| version : 7 |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| authoredOn : 2023-09-06T09:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| note |
| text : No Sample Required |
| 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. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago. |
{
],
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
],
"text": "Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy"
}
],
{
}
]
},
{
{
}
]
}
],
}
},
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago."
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</basedOn>
</coding>
</category>
</coding>
<text value="Significant new treatment and or clinical management implication for the patient.Please provide details/treatment for management of epilepsy" />
</category>
</coding>
</code>
</coding>
</orderDetail>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/E.g. Reanlaysis - change in observed phenotype. Epilepsy test previously ordered on patient 5 years ago." />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example
Example of a ServiceRequest using an existing specimen. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : dna-storage |
| display : DNA Storage |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R134 |
| display : Familial Hypercholesterolaemia |
| version : 7 |
| subject |
| reference : Patient/Patient-TimMclullichs-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303452 |
| authoredOn : 2023-11-02T11:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-OscarShields-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-DutchLipidScore-Example |
| supportingInfo |
| reference : Observation/Observation-QueryXanthoma-Example |
| supportingInfo |
| reference : Observation/Observation-SimonBroomeCriteria-Example |
| specimen |
| reference : Specimen/Specimen-BloodEDTA-WithCollectionDetails-Example |
| identifier |
| system : https://fhir.bwc.nhs.uk//Id/specimenId |
| value : RQ3-RTH-698C0-17543 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RQ3 |
| 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/ patient to be tested for FH, use existing DNA sample in storage |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
}
}
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</identifier>
</assigner>
</identifier>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderFormUpdated-Cancellation-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-NonWGSTestOrderFormUpdated-Cancellation-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-08-08T15:43:00Z |
| 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 |
| status : revoked |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R67.1 |
| display : Monogenic hearing loss |
| version : 7 |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-08T15:43:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-NatureAndAgeOfHearingLoss-Example |
| specimen |
| reference : Specimen/Specimen-BloodEDTA-Example |
| note |
| text : Test no longer required. |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example |
{
},
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example"
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-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-NonWGSTestOrderFormUpdated-FetalScenario-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-09-26T10:00:00Z |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : staging-or-prognosis |
| display : Staging or Prognosis |
| priority : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R21 |
| display : Fetal anomalies with a likely genetic cause |
| version : 7 |
| subject |
| reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : FT-RWT13521 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX |
| authoredOn : 2023-09-26T10:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
| supportingInfo |
| reference : Observation/Observation-HistoryOfFetalLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-PregnancyConfirmation-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
| supportingInfo |
| reference : Procedure/Procedure-InVitroFertilisation-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulder-Example |
| supportingInfo |
| reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Patient/Patient-RyanneBoulderPartner-Example |
| supportingInfo |
| reference : Specimen/Specimen-BloodEDTA-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderSaliva-Example |
| supportingInfo |
| reference : Specimen/Specimen-RyanneBoulderPartnerSaliva-Example |
| note |
| text : No family history of relevant testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
{
},
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
ServiceRequest-NonWGSTestOrderFormUpdated-SolidTumor-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-NonWGSTestOrderFormUpdated-SolidTumor-Example |
| meta |
| versionId : 3 |
| lastUpdated : 2023-08-08T15:43:00Z |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-non-wgs |
| display : Cancer - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : relapse |
| display : Relapse |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : M119.5 |
| display : Multi Target NGS Panel Small |
| version : 9 |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307555 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| supportingInfo |
| reference : Observation/Observation-Cellularity-Example |
| supportingInfo |
| reference : Observation/Observation-TumorType-Example |
| supportingInfo |
| reference : Observation/Observation-Necrosis-Example |
| supportingInfo |
| reference : Observation/Observation-NeoplasticCell-Example |
| supportingInfo |
| reference : Condition/Condition-LungTumor-Example |
| specimen |
| reference : Specimen/Specimen-SolidTumor-Example |
| note |
| text : Additional portion of Sample X was provided. |
{
},
{
{
}
]
}
},
{
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
}
],
{
},
{
},
{
},
{
},
{
}
],
],
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
</ServiceRequest>
ServiceRequest-SavedTestOrder-Example
Example of a ServiceRequest retrieved from the central broker. After being saved on the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-SavedTestOrder-Example |
| 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 : ROA43728 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-05 |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Condition/Condition-HearingLoss-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/ Patient in need of test...example |
{
{
{
}
]
}
}
],
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example" />
</note>
</ServiceRequest>
ServiceRequest-SavedTestOrderUpdated-CascadeTesting-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-SavedTestOrderUpdated-CascadeTesting-Example |
| basedOn |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-10-06T09:00:00Z |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : predictive |
| display : Predictive |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R134 |
| display : Familial Hypercholesterolaemia |
| version : 7 |
| orderDetail |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R242.1 |
| display : Predictive testing for known familial mutation(s) |
| version : 7 |
| subject |
| reference : Patient/Patient-FayMutlow-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307806 |
| authoredOn : 2023-10-04T11:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-MarySmith-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-DutchLipidScore-Example |
| supportingInfo |
| reference : Observation/Observation-QueryXanthoma-Example |
| supportingInfo |
| reference : Observation/Observation-SimonBroomeCriteria-Example |
| specimen |
| reference : Specimen/Specimen-FayMutlowBloodEDTA-Example |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms |
| note |
| text : Father tested positive for FH. Confirmation required if daughter is postive for FH |
{
],
},
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
{
{
}
]
}
],
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms"
},
{
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</basedOn>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</coding>
</orderDetail>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" />
</note>
</note>
</ServiceRequest>
ServiceRequest-SavedTestOrderUpdated-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-SavedTestOrderUpdated-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-08-10T11:10:00Z |
| 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 |
| identifier |
| system : https://fhir.nhs.uk/Id/GMSOrder |
| value : ROA43728 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-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 : R67.1 |
| display : Monogenic hearing loss |
| version : 7 |
| subject |
| reference : Patient/Patient-MeirLieberman-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-08-05 |
| requester |
| reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999999 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Condition/Condition-HearingLoss-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/ Patient in need of test...example |
{
},
{
{
}
]
}
}
],
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
}
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example"
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</identifier>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example" />
</note>
</ServiceRequest>
ServiceRequest-SavedTestOrderWGS-Example
Example of a ServiceRequest. After being saved on the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-SavedTestOrderWGS-Example |
| 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 : RAS61763 |
| 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 : R193.4 |
| display : Cystic renal disease |
| version : 7 |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authoredOn : 2023-08-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-MultipleRenalCysts-Example |
| supportingInfo |
| reference : Observation/Observation-Nephronophthisis-Example |
| supportingInfo |
| reference : Observation/Observation-HepaticCysts-Example |
| supportingInfo |
| reference : Observation/Observation-EnlargedKidney-Example |
| supportingInfo |
| reference : Observation/Observation-RenalInsufficiency-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-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/ Patient diagnoses with ADPKD (example) |
{
{
{
}
]
}
}
],
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" />
</note>
</ServiceRequest>
ServiceRequest-TestOrderForm-StorageOfMaterial-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-TestOrderForm-StorageOfMaterial-Example |
| 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 |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-non-wgs |
| display : Rare Disease - Non-WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : dna-storage |
| display : DNA Storage |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R346 |
| display : DNA to be stored |
| version : 7 |
| subject |
| reference : Patient/Patient-TimMclullichs-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303452 |
| authoredOn : 2023-10-28T11:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-OscarShields-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| note |
| text : Specimen will be provided at a later date |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ E.g. DNA to be stored for future testing |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ E.g. DNA to be stored for future testing"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ E.g. DNA to be stored for future testing" />
</note>
</ServiceRequest>
ServiceRequest-WGSTestOrderForm-CancerHaemOnc-Example
Example of a ServiceRequest submitted to request a WGS Cancer-test with a liquid tumour sample type. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-CancerHaemOnc-Example |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-wgs |
| display : Cancer - 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 : M89.108 |
| display : Acute Leukaemia Other |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| supportingInfo |
| reference : Condition/Condition-AcuteMyeloidLeukaemia-Example |
| supportingInfo |
| reference : Observation/Observation-BlastPercentage-Example |
| supportingInfo |
| reference : Observation/Observation-NucleatedCellCountWGSSample-Example |
| supportingInfo |
| reference : Observation/Observation-PatrickSammyNoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-Example |
| specimen |
| reference : Specimen/Specimen-PatrickSammyBoneMarrowAspiration-Example |
| note |
| text : Relevant Family History |
| note |
| text : Other Additional Information |
{
{
{
}
]
}
},
{
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
}
],
{
},
{
},
{
},
{
},
{
}
],
],
]
}
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
</note>
</ServiceRequest>
ServiceRequest-WGSTestOrderForm-CancerSolidTumor-Example
Example of a ServiceRequest submitted to request a WGS Cancer-test with a solid tumour sample type. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-CancerSolidTumor-Example |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-wgs |
| display : Cancer - 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 : M233.1 |
| display : Acute Leukaemia Other |
| subject |
| reference : Patient/Patient-DemeizaSeo-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449306559 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| supportingInfo |
| reference : Observation/Observation-TumorType-Example |
| supportingInfo |
| reference : Observation/Observation-PercentageMalignantNuclei-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-Example |
| specimen |
| reference : Specimen/Specimen-SolidTumorDemeizaSeo-Example |
| note |
| text : Relevant Family History |
| note |
| text : Other Additional Information |
{
{
{
}
]
}
},
{
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
}
],
{
},
{
},
{
}
],
],
]
}
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
</note>
</ServiceRequest>
ServiceRequest-WGSTestOrderForm-DirectToLab-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-DirectToLab-Example |
| 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 |
| 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 : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R14 |
| display : Acutely unwell children with a likely monogenic disorder |
| version : 7 |
| subject |
| reference : Patient/Patient-JamesMetcalfe-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 7449306524 |
| authoredOn : 2023-10-01T15:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-EugeneSmith-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RH8 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-DiseasePenetrance-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-Immunodefficiency-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-Example |
| specimen |
| reference : Specimen/Specimen-JamesMetcalfeBloodEDTA-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 |
| note |
| text : E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms"
},
{
"text": "E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" />
</note>
<text value="E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management" />
</note>
</ServiceRequest>
ServiceRequest-WGSTestOrderForm-Example
Example of a ServiceRequest. The scenario this is for is detailed on WGS Test Request - Rare Disease
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-Example |
| 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 |
| 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 : R193.4 |
| display : Cystic renal disease |
| version : 7 |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authoredOn : 2023-08-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-MultipleRenalCysts-Example |
| supportingInfo |
| reference : Observation/Observation-Nephronophthisis-Example |
| supportingInfo |
| reference : Observation/Observation-HepaticCysts-Example |
| supportingInfo |
| reference : Observation/Observation-EnlargedKidney-Example |
| supportingInfo |
| reference : Observation/Observation-RenalInsufficiency-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-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/ Patient diagnoses with ADPKD (example) |
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)"
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" />
</note>
</ServiceRequest>
ServiceRequest-WGSTestOrderForm-GermlineLate-Example
Example of a ServiceRequest submitted to represent the Tumour first, Germline late scenario. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-GermlineLate-Example |
| basedOn |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderForm-CancerHaemOnc-Example |
| 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 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
| value |
| reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : cancer-wgs |
| display : Cancer - 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 : M89.109 |
| display : Acute Leukaemia Other |
| subject |
| reference : Patient/Patient-PatrickSammy-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307873 |
| authoredOn : 2023-09-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJZ |
| display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
| specimen |
| reference : Specimen/Specimen-PatrickSammyBloodEDTA-Example |
| note |
| text : Relevant Family History |
| note |
| text : Other Additional Information |
{
],
{
{
}
]
}
},
{
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
}
],
],
]
}
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</basedOn>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</specimen>
</note>
</note>
</ServiceRequest>
ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example |
| identifier |
| system : https://fhir.leedssth.nhs.uk//Id/grouptestId |
| value : RR-REQ12764 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RR8 |
| 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 |
| 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-EugeneSmithLeedsSTH-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 |
| 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. |
{
{
}
}
],
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
],
"text": "This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s"
},
}
},
},
],
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"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."
}
]
}
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</assigner>
</identifier>
</coding>
</category>
</coding>
</category>
</coding>
<text value="This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s" />
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</reasonReference>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>
ServiceRequest-WGSTestOrderFormUpdated-DirectToLab-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-DirectToLab-Example |
| meta |
| versionId : 2 |
| lastUpdated : 2023-10-10T16:00:00Z |
| 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 |
| 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 : urgent |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R14 |
| display : Acutely unwell children with a likely monogenic disorder |
| version : 7 |
| subject |
| reference : Patient/Patient-JamesMetcalfe-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 7449306524 |
| authoredOn : 2023-10-10T11:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-EugeneSmith-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RH8 |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-DiseasePenetrance-Example |
| supportingInfo |
| reference : Observation/Observation-NonConsanguinousUnion-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-Immunodefficiency-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Consent/Consent-RoDYoungPersonAssentFormAvailable-Example |
| specimen |
| reference : Specimen/Specimen-JamesMetcalfeBloodEDTA-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 |
| note |
| text : E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management |
{
},
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms"
},
{
"text": "E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management"
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</specimen>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" />
</note>
<text value="E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management" />
</note>
</ServiceRequest>
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. |
{
"http://hl7.eu/fhir/laboratory/StructureDefinition/ServiceRequest-eu-lab",
"https://fhir.hl7.org.uk/StructureDefinition/UKCore-ServiceRequest"
]
},
{
{
}
]
}
}
],
],
}
},
{
{
}
]
},
{
{
}
]
}
],
{
}
],
"text": "This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s"
},
}
},
},
],
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"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."
}
]
}
</meta>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</coding>
</category>
</coding>
<text value="This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s" />
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</reasonReference>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</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>