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-WGSTestOrderForm-TrioTestingProband-Example
Example of a ServiceRequest for proband in a family testing. ServiceRequest.requisition is populated, and ServiceRequest.extension:genomicPatientRole is set to proband to identify it as the primary ServiceRequest for the group test.
| ServiceRequest |
| id : ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example |
| extension |
| url : https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role |
| value |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| code : proband |
| display : Proband |
| 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 |
| system : https://fhir.leedssth.nhs.uk//Id/grouptestId |
| value : RR-REQ12764 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RR8 |
| 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 |
| version : 7 |
| code : R98.2 |
| display : Likely inborn error of metabolism |
| text : This is a Trio Testing, this ServiceRequest generates a Requisition ID that linked the proband and consultands |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307539 |
| authoredOn : 2026-01-13T15:00:00Z |
| requester |
| reference : PractitionerRole/PractitionerRole-EugeneSmithLeedsSTH-Example |
| performer |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : R0A |
| reasonReference |
| reference : Condition/Condition-InbornErrorOfMetabolism-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 : Observation/Observation-IntellectualDisabilityMild-Example |
| supportingInfo |
| reference : Consent/Consent-RoD-PheobeSmitham-Example |
| supportingInfo |
| reference : Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example |
| supportingInfo |
| reference : QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-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, this ServiceRequest generates a Requisition ID that linked the proband and consultands"
},
}
},
},
],
],
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"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>
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</requisition>
</coding>
</category>
</coding>
</category>
</coding>
<text value="This is a Trio Testing, this ServiceRequest generates a Requisition ID that linked the proband and consultands" />
</code>
</identifier>
</subject>
</requester>
</identifier>
</performer>
</reasonReference>
</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>