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Packageuk.nhsengland.genomics.r4
Resource TypeServiceRequest
IdServiceRequest-WGSTestOrderForm-TrioTestingProband-Example.json
FHIR VersionR4

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Source1

{
  "resourceType": "ServiceRequest",
  "id": "ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example",
  "identifier": [
    {
      "system": "https://fhir.nhs.uk/Id/GMSOrder",
      "value": "RR8F1792"
    }
  ],
  "extension": [
    {
      "url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics",
            "code": "proband",
            "display": "Proband"
          }
        ]
      }
    },
    {
      "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"
          }
        ]
      }
    }
  ],
  "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"
        }
      ]
    },
    {
      "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": "R98.2",
        "display": "Likely inborn error of metabolism",
        "version": "7"
      }
    ],
    "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"
  },
  "reasonReference": [
    {
      "reference": "Condition/Condition-InbornErrorOfMetabolism-Example"
    }
  ],
  "performer": [
    {
      "identifier": {
        "system": "https://fhir.nhs.uk/Id/ods-organization-code",
        "value": "R0A"
      }
    }
  ],
  "supportingInfo": [
    {
      "reference": "Observation/Observation-DelayedSpeechLanguageDevt-Example"
    },
    {
      "reference": "Observation/Observation-DiseasePenetrancePheobeSmitham-Example"
    },
    {
      "reference": "Observation/Observation-IntellectualDisabilityProfound-Example"
    },
    {
      "reference": "Observation/Observation-NonConsanguinousUnionProband-Example"
    },
    {
      "reference": "Specimen/Specimen-PheobeSmitham-Example"
    },
    {
      "reference": "Observation/Observation-GenomicEthnicity-Example"
    },
    {
      "reference": "Observation/Observation-NoPregnancy-Example"
    },
    {
      "reference": "Condition/Condition-MonogenicHearingLoss-Example"
    },
    {
      "reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
    },
    {
      "reference": "Observation/Observation-NoTransfusion-Example"
    },
    {
      "reference": "Observation/Observation-IntellectualDisabilityMild-Example"
    },
    {
      "reference": "Consent/Consent-RoD-PheobeSmitham-Example"
    },
    {
      "reference": "Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example"
    },
    {
      "reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
    },
    {
      "reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
    }
  ],
  "note": [
    {
      "text": "No family history of genomic testing"
    },
    {
      "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."
    }
  ]
}