This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) 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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Raw json

{
  "resourceType" : "DiagnosticReport",
  "id" : "diagnosticreport-hla-glstring-r4",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnosticreport"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns="http://www.w3.org/1999/xhtml">
            <pre>
HLA-A,-B,-C genotyping report for sample-id=123456789 

LOCUS   ALLELE ASSIGNMENT
HLA-A   HLA-A*03:01:01:01
        HLA-A*30:01:01
        
HLA-B   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
        
HLA-C   HLA-C*07:04:01:01/HLA-C*07:04:01:03
        HLA-C*12:03:01:01/HLA-C*12:03:01:06

Allele assignments based on IMGT/HLA 3.31.0
Effective date: 2018-07-26

Lab: aTypingLab Inc
           </pre>
        </div>"
  },
  "basedOn" : [
    {
      "reference" : "ServiceRequest/f123",
      "display" : "Sequence-based typing of HLA-A for sample-id=123456789"
    },
    {
      "reference" : "ServiceRequest/f124",
      "display" : "Sequence-based typing of HLA-B for sample-id=123456789"
    },
    {
      "reference" : "ServiceRequest/f125",
      "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://loinc.org",
        "code" : "53767-0",
        "display" : "HLA-A+B+C SBT [Interpretation] by High resolution"
      }
    ]
  },
  "effectiveDateTime" : "2018-07-26",
  "performer" : [
    {
      "reference" : "Oranization/f345",
      "display" : "aTypingLab, Inc"
    }
  ],
  "specimen" : [
    {
      "reference" : "Specimen/f456",
      "display" : "buccal swab: 123456789"
    }
  ],
  "result" : [
    {
      "reference" : "Observation/f234",
      "type" : "Observation",
      "display" : "HLA-A genotype: HLA-A:01:01:01G+HLA-A*01:02"
    },
    {
      "reference" : "Observation/f235",
      "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"
    },
    {
      "reference" : "Observation/f236",
      "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"
    }
  ]
}