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Packageuk.nhsengland.genomics.r4
Resource TypeServiceRequest
IdServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example.json
FHIR VersionR4

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Source1

{
  "resourceType": "ServiceRequest",
  "id": "ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example",
  "basedOn": [
    {
      "reference": "ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example"
    }
  ],
  "extension": [
    {
      "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
            "code": "nhs-england",
            "display": "NHS England"
          }
        ]
      }
    }
  ],
  "status": "active",
  "intent": "order",
  "category": [
    {
      "coding": [
        {
          "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
          "code": "rare-disease-non-wgs"
        }
      ]
    },
    {
      "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"
        }
      ]
    },
    {
      "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"
    },
    {
      "reference": "Condition/Condition-MonogenicHearingLoss-Example"
    },
    {
      "reference": "Observation/Observation-NoPregnancy-Example"
    },
    {
      "reference": "Observation/Observation-NonConsanguinousUnion-Example"
    },
    {
      "reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
    },
    {
      "reference": "Observation/Observation-NoTransfusion-Example"
    }
  ],
  "note": [
    {
      "text": "No sample required."
    },
    {
      "text": "No family history of genomic testing"
    },
    {
      "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"
    }
  ]
}