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-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>