Diagnosticreport-hla-genetics-results-example.json

An example of a HLA genotyping results report

{
  "resourceType": "DiagnosticReport",
  "id": "hla-1",
  "text": {
    "status": "extensions",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n        <h3>HLA-A,-B,-C Genotyping Report for Marry Chalmers (MRN: 12345) </h3>\n        <pre>\n        Gene      Allele 1          Allele 2\n        HLA-A     HLA-A*01:01:01:01     HLA-A*01:02\n        HLA-B     HLA-B*15:01:01:01     HLA-B*57:01:01\n        HLA-C     HLA-C*01:02:01        HLA-C*03:04:01:01\n        </pre>\n        <p>Allele assignments based on IMGT/HLA 3.23</p>\n        <p>Issued: 2015-05-26T15:30:10+01:00</p>\n        <p>Method: Next-Generation Sequencing of exons 2 and 3 of HLA Class I genes</p>\n        <p>Lab: ACME labs, Inc</p>\n        <p>Please refer the <a href=\"genomics.html#hla\">implementation guide </a> for this usage example.</p>\n      </div>"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/hla-genotyping-resultsAlleleDatabase",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.ebi.ac.uk/ipd/imgt/hla/",
            "version": "3.23"
          }
        ],
        "text": "IMGT/HLA 3.23"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/hla-genotyping-resultsGlstring",
      "extension": [
        {
          "url": "text",
          "valueString": "HLA-A*01:01:01:01+HLA-A*01:02^HLA-B*15:01:01:01+HLA-B*57:01:01^HLA-C*01:02:01+HLA-C*03:04:01:01"
        },
        {
          "url": "uri",
          "valueUri": "https://gl.nmdp.org/imgt-hla/3.23.0/multilocus-unphased-genotype/i"
        }
      ]
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/hla-genotyping-resultsMethod",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.ncbi.nlm.nih.gov/gtr/",
            "code": "GTR000000000.0"
          }
        ],
        "text": "Next Generation Sequencing of exons 2 and 3 of HLA Class I genes"
      }
    }
  ],
  "status": "final",
  "category": {
    "coding": [
      {
        "system": "http://hl7.org/fhir/ValueSet/diagnostic-service-sections",
        "code": "GE",
        "display": "Genetics"
      }
    ]
  },
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "53767-0",
        "display": "HLA-A+B+C SBT [Interpretation] by High resolution"
      }
    ]
  },
  "subject": {
    "reference": "Patient/123",
    "display": "Mary Chalmers"
  },
  "effectiveDateTime": "2015-05-26T15:30:10+01:00",
  "issued": "2014-05-16T10:28:00+01:00",
  "request": [
    {
      "reference": "DiagnosticRequest/789",
      "display": "Order for HLA-A,-B,-C genotyping"
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/456",
      "display": "buccal swab"
    }
  ],
  "result": [
    {
      "reference": "Observation/111",
      "display": "Genotype Observation for for HLA-A"
    },
    {
      "reference": "Observation/222",
      "display": "Genotype Observation for for HLA-B"
    },
    {
      "reference": "Observation/333",
      "display": "Genotype Observation for for HLA-C"
    }
  ]
}