NHSDigital-FHIR-Genomics-ImplementationGuide/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example.json at d79a9a23dcbcc6b1dd673db339292273a0399598 · NHSDigital/NHSDigital-FHIR-Genomics-ImplementationGuide · GitHub

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{
  "resourceType": "ServiceRequest",
  "id": "ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example",
  "basedOn": [
    {
      "reference": "ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-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",
          "display": "Rare Disease - Non-WGS"
        }
      ]
    },
    {
      "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"
    },
    {
      "reference": "Observation/Observation-NoPregnancy-Example"
    },
    {
      "reference": "Condition/Condition-MonogenicHearingLoss-Example"
    },
    {
      "reference": "Observation/Observation-NonConsanguinousUnion-Example"
    },
    {
      "reference": "Observation/Observation-NoTransplant-Example"
    },
    {
      "reference": "Observation/Observation-NoTransfusion-Example"
    },
    {
      "reference": "Observation/Observation-DutchLipidScore-Example"
    },
    {
      "reference": "Observation/Observation-QueryXanthoma-Example"
    },
    {
      "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"
    },
    {
      "text": "Father tested positive for FH. Confirmation required if daughter is positive for FH"
    }
  ]
}