Genomics Reporting Implementation Guide
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This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: PGXGenomicStudyAnalysis - JSON Representation

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{
  "resourceType" : "Procedure",
  "id" : "PGXGenomicStudyAnalysis",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
    ]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"PGXGenomicStudyAnalysis\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource Procedure &quot;PGXGenomicStudyAnalysis&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Genome Build</b>: GRCh38 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26806-2)</span></p><blockquote><p><b>Genomic Study Analysis Metrics</b></p><blockquote><p><b>url</b></p><code>sequencing-coverage</code></blockquote><p><b>value</b>: 100</p></blockquote><blockquote><p><b>Genomic Study Analysis Regions</b></p><blockquote><p><b>url</b></p><code>description</code></blockquote><p><b>value</b>: protein-coding and exon-splicing regions</p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: CYP2C19 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:2621)</span></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: CYP2C9 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:2623)</span></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: VKORC1 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:23663)</span></p></blockquote><p><b>status</b>: completed</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Patient/CGPatientExample01</a> &quot; EVERYMAN&quot;</p><p><b>performed</b>: 2021-01-01 01:01:10-0600</p></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA26806-2",
            "display" : "GRCh38"
          }
        ]
      }
    },
    {
      "extension" : [
        {
          "url" : "sequencing-coverage",
          "valueQuantity" : {
            "value" : 100
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics"
    },
    {
      "extension" : [
        {
          "url" : "description",
          "valueString" : "protein-coding and exon-splicing regions"
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org",
                "code" : "HGNC:2621",
                "display" : "CYP2C19"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org",
                "code" : "HGNC:2623",
                "display" : "CYP2C9"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org",
                "code" : "HGNC:23663",
                "display" : "VKORC1"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
    }
  ],
  "status" : "completed",
  "category" : {
    "coding" : [
      {
        "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
        "code" : "laboratory"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/CGPatientExample01"
  },
  "performedDateTime" : "2021-01-01T01:01:10-06:00"
}