Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - Observation for a single HLA-A allele - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "haplotype-hla-a-1-r4",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <pre>Observation for HLA-A*03:01:01:01 allele</pre>\n        </div>"
  },
  "basedOn" : [
    {
      "type" : "ServiceRequest",
      "display" : "Sequence-based typing of HLA-A for sample 001-246802468"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "84414-2",
        "display" : "Haplotype name"
      },
      {
        "system" : "http://loinc.org",
        "code" : "57290-9",
        "display" : "HLA-A [Type] by High resolution"
      }
    ]
  },
  "effectiveDateTime" : "2018-07-26",
  "performer" : [
    {
      "type" : "Organization",
      "display" : "aTypingLab, Inc"
    }
  ],
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
        "version" : "3.31.0",
        "code" : "HLA-A*03:01:01:01"
      }
    ]
  },
  "specimen" : {
    "display" : "buccal swab: 123456789"
  },
  "derivedFrom" : [
    {
      "type" : "MolecularSequence",
      "display" : "Sequence for HLA-A*03:01:01:01"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:4931",
            "display" : "HLA-A"
          }
        ],
        "text" : "HLA-A"
      }
    }
  ]
}