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-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>