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 - HLA genotyping for HLA-A, HLA-B, and HLA-C, using GLStrings - JSON Representation

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{
  "resourceType" : "DiagnosticReport",
  "id" : "diagnosticreport-hla-glstring-r4",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <pre>\nHLA-A,-B,-C genotyping report for sample-id=123456789\n\nLOCUS   ALLELE ASSIGNMENT\nHLA-A   HLA-A*03:01:01:01\n        HLA-A*30:01:01\n\nHLA-B   HLA-B*15:01:01:01\n        HLA-B*40:01:02:01/HLA-B*40:01:02:02/HLA-B*40:01:02:04/HLA-B*40:01:02:06\n\nHLA-C   HLA-C*07:04:01:01/HLA-C*07:04:01:03\n        HLA-C*12:03:01:01/HLA-C*12:03:01:06\n\nAllele assignments based on IMGT/HLA 3.31.0\nEffective date: 2018-07-26\n\nLab: aTypingLab Inc\n           </pre>\n        </div>"
  },
  "basedOn" : [
    {
      "display" : "Sequence-based typing of HLA-A for sample-id=123456789"
    },
    {
      "display" : "Sequence-based typing of HLA-B for sample-id=123456789"
    },
    {
      "display" : "Sequence-based typing of HLA-C for sample-id=123456789"
    }
  ],
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "81247-9",
        "display" : "Master HL7 genetic variant reporting panel"
      },
      {
        "system" : "http://genenames.org/geneId",
        "code" : "588",
        "display" : "Histocompatibility complex (HLA)"
      }
    ]
  },
  "effectiveDateTime" : "2018-07-26",
  "performer" : [
    {
      "display" : "aTypingLab, Inc"
    }
  ],
  "specimen" : [
    {
      "display" : "buccal swab: 123456789"
    }
  ],
  "result" : [
    {
      "type" : "Observation",
      "display" : "HLA-A genotype: HLA-A:01:01:01G+HLA-A*01:02"
    },
    {
      "type" : "Observation",
      "display" : "HLA-B genotype: HLA-B*15:01:01:01+HLA-B*40:01:02:01/HLA-B*40:01:02:02/HLA-B*40:01:02:04/HLA-B*40:01:02:06"
    },
    {
      "type" : "Observation",
      "display" : "HLA-C genotype: HLA-C*07:04:01:01/HLA-C*07:04:01:03+HLA-C*12:03:01:01/HLA-C*12:03:01:06"
    }
  ]
}