{

"resourceType": "Observation",
"id": "genetics-example1-somatic",
"text": {
  "status": "generated",
  "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example1-somatic</p><p><b>contained</b>: </p><p><b>status</b>: final</p><p><b>code</b>: Genetic analysis master panel ­Blood or Tissue by Molecular genetics method <span>(Details : {LOINC code '55233-1' = 'Genetic analysis master panel - Blood or Tissue by Molecular genetics method', given as 'Genetic analysis master panel ­Blood or Tissue by Molecular genetics method'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>interpretation</b>: positive <span>(Details : {http://hl7.org/fhir/v2/0078 code 'POS' = 'Positive)</span></p><p><b>comments</b>: The EGFR p.L858R mutation has been associated with response to anti-EGFR therapy</p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p></div>"
},
"contained": [
  {
    "resourceType": "Condition",
    "id": "c1",
    "patient": {
      "reference": "Patient/p1"
    },
    "code": {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "254626006"
        }
      ],
      "text": "Adenocarcinoma of lung "
    },
    "category": {
      "coding": [
        {
          "system": "http://hl7.org/fhir/condition-category",
          "code": "finding",
          "display": "Finding"
        }
      ]
    },
    "verificationStatus": "provisional"
  }
],
"extension": [
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomeBuild",
    "valueString": "GRCh 37"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsChromosome",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/gene",
          "code": "NC_000007"
        }
      ],
      "text": "Homo sapiens chromosome 7"
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomicStart",
    "valueInteger": 55259515
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomicStop",
    "valueInteger": 55259516
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsSpecies",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "337915000"
        }
      ],
      "text": "Homo sapiens"
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsCIGAR",
    "valueString": "1M"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsAssessedCondition",
    "valueReference": {
      "reference": "#c1"
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsReferenceAllele",
    "valueString": "T"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsObservedAllele",
    "valueString": "G"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGene",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://www.genenames.org",
          "code": "3236",
          "display": "EGFR"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsTranscriptReferenceSequenceId",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://www.ensembl.org",
          "code": "ENSESTT00000085772.1"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariation",
    "valueString": "c.2573T>G"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariationType",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://loinc.org",
          "code": "LA6690-7",
          "display": "Substitution"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange",
    "valueString": "p.Leu858Arg"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsAlleleName",
    "valueString": "p.L858R"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomicSourceClass",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://loinc.org",
          "code": "LA6684-0",
          "display": "Somatic"
        }
      ]
    }
  }
],
"status": "final",
"code": {
  "coding": [
    {
      "system": "http://loinc.org",
      "code": "55233-1",
      "display": "Genetic analysis master panel ­Blood or Tissue by Molecular genetics method"
    }
  ]
},
"subject": {
  "reference": "Patient/genetics-example1-somatic",
  "display": "Molecular Lab Patient ID: HOSP-23456"
},
"performer": [
  {
    "reference": "Practitioner/genetics-example1-somatic",
    "display": "Molecular Diagnostic Laboratory"
  }
],
"interpretation": {
  "coding": [
    {
      "system": "http://hl7.org/fhir/v2/0078",
      "code": "POS"
    }
  ],
  "text": "positive"
},
"comments": "The EGFR p.L858R mutation has been associated with response to anti-EGFR therapy",
"specimen": {
  "reference": "Specimen/genetics-example1-somatic",
  "display": "Molecular Specimen ID: MLD45-Z4-1234"
}

}