This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 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 - HLA genotyping for HLA-A, using GLStrings - JSON Representation

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Raw json

{
  "resourceType" : "Observation",
  "id" : "genotype-hla-a-glstring-r4",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <pre>\nHLA-A genotyping for sample 123456789\nHLA-A*03:01:01:01+HLA-A*30:01:01</pre>\n        </div>"
  },
  "basedOn" : [
    {
      "display" : "Sequence-based typing of HLA-A for sample-id=123456789"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "84413-4",
        "display" : "Genotype display 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://glstring.org",
        "version" : "1.0",
        "code" : "hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01"
      }
    ]
  },
  "method" : {
    "text" : "PACBIO Sequel"
  },
  "specimen" : {
    "display" : "buccal swab: 123456789"
  },
  "derivedFrom" : [
    {
      "type" : "Observation",
      "display" : "HLA-A Allele: HLA-A*03:01:01:01"
    },
    {
      "type" : "Observation",
      "display" : "HLA-A Allele: HLA-A*30:01:01"
    }
  ],
  "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"
          }
        ]
      }
    }
  ]
}