Obs-genetics-example3-bcr1 and bcr2 sequencing with FamilyHistory -2.json

BRACAnalysis -2

{
  "resourceType": "Observation",
  "id": "ob-genetics-3-2",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: ob-genetics-3-2</p><p><b>status</b>: final</p><p><b>code</b>: BRCA2 gene mutation analysis <span>(Details : {LOINC code '38530-2' = 'BCRA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal', given as 'BRCA2 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Marry Chalmers(MRN: 12345)</a></p><p><b>effective</b>: 26/05/2015 3:30:10 PM</p><p><b>value</b>: Positive <span>(Details : {SNOMED CT code '10828004' = '10828004', given as 'Positive'})</span></p><p><b>method</b>: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc <span>(Details : {http://www.ncbi.nlm.nih.gov/gtr/ code 'GTR000521311.1' = '??', given as 'BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc'})</span></p><h3>Components</h3><table><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>Genetic disease sequence variation interpretation <span>(Details : {LOINC code '53037-8' = 'Genetic disease sequence variation interpretation [interpretation] in Blood or Tissue by Molecular genetics method', given as 'Genetic disease sequence variation interpretation'})</span></td><td>Pathogenic <span>(Details : {[not stated] code 'LA6668-3' = '??', given as 'Pathogenic'})</span></td></tr></table></div>"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
      "valueReference": {
        "reference": "#off2"
      }
    },
    {
      "extension": [
        {
          "url": "genomeBuild",
          "valueCodeableConcept": {
            "text": "GRCh 38"
          }
        },
        {
          "url": "name",
          "valueCodeableConcept": {
            "text": "185delAG"
          }
        }
      ],
      "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
    }
  ],
  "status": "final",
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "38530-2",
        "display": "BRCA2 gene mutation analysis"
      }
    ]
  },
  "subject": {
    "reference": "Patient/example",
    "display": "Marry Chalmers(MRN: 12345)"
  },
  "effectiveDateTime": "2015-05-26T15:30:10+01:00",
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "10828004",
        "display": "Positive"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://www.ncbi.nlm.nih.gov/gtr/",
        "code": "GTR000521311.1",
        "display": "BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8",
            "display": "Genetic disease sequence variation interpretation"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "code": "LA6668-3",
            "display": "Pathogenic"
          }
        ]
      }
    }
  ]
}