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Narrative

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Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-seltene-molgen-brca-panel",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "LAB",
          "display": "Laboratory"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "81247-9",
        "display": "Master HL7 genetic variant reporting panel"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime": "2024-11-01",
  "result": [
    {
      "reference": "Observation/mii-exa-seltene-molgen-variant-brca1-pathogenic"
    }
  ],
  "conclusion": "Pathogene Variante c.68_69del (p.Glu23Valfs*17) in BRCA1 nachgewiesen. Diese Frameshift-Mutation führt zu einem vorzeitigen Stopcodon. Erhöhtes Risiko für Mamma- und Ovarialkarzinom. Lebenszeitrisiko Mammakarzinom: 60-72%, Ovarialkarzinom: 40-44%.",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://omim.org",
          "code": "604370",
          "display": "Breast-ovarian cancer, familial, 1"
        }
      ]
    }
  ]
}