{
  "resourceType" : "DiagnosticReport",
  "id" : "PrenatalGenomicReportPatientFemale",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport PrenatalGenomicReportPatientFemale</b></p><a name=\"PrenatalGenomicReportPatientFemale\"> </a><a name=\"hcPrenatalGenomicReportPatientFemale\"> </a><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\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-genomic-report.html\">Genomic Report</a></p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6\u00a0(use:\u00a0official,\u00a0))</td></tr><tr><td>When For</td><td>2024-06-26</td></tr><tr><td>Performers</td><td> <a href=\"Organization-Organization.html\">Organization Generic Laboratories, Inc.</a> <a href=\"Practitioner-PractitionerLabDirector.html\">Practitioner PractitionerJane Smith </a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td></tr><tr><td><a href=\"Observation-PrenatalVariantFactorXiDeficiencyPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9634-2}\">Absent</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariantGlycogenStorageDiseaseTypePatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9634-2}\">Absent</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant1SNPHereditaryHemochromatoPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant2SNPHereditaryHemochromatoPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariantPrimaryHyperoxaluriaPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9634-2}\">Absent</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant1FragileXSyndromePatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant2FragileXSyndromePatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpFactorXiDeficiencyPatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpGlycogenStorageDiseasePatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpHereditaryHemochromatoPatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td><blockquote><div><p>Risk not calculated for HFE-associated hereditary hemochromatosis</p>\n</div></blockquote></td></tr><tr><td><a href=\"Observation-PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpFragileXSyndromePatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td><blockquote><div><p>Risk not calculated for fragile X syndrome</p>\n</div></blockquote></td></tr></table><p>Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
  },
  "extension" : [{
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
    "valueReference" : {
      "reference" : "Procedure/PrenatalGenomicStudyPatientFemale",
      "display" : "Genomic study"
    }
  },
  {
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
    "valueReference" : {
      "reference" : "RiskAssessment/PrenatalResidualRiskFactorXiDeficiencyPatientFemale",
      "display" : "Genomic study"
    }
  },
  {
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
    "valueReference" : {
      "reference" : "RiskAssessment/PrenatalResidualRiskGlycogenStorageDiseasePatientFemale",
      "display" : "Genomic study"
    }
  },
  {
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
    "valueReference" : {
      "reference" : "RiskAssessment/PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale",
      "display" : "Genomic study"
    }
  }],
  "basedOn" : [{
    "reference" : "ServiceRequest/PrenatalServiceRequestCouple"
  }],
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE",
      "display" : "Genetics"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "51969-4",
      "display" : "Genetic analysis report"
    }]
  },
  "subject" : {
    "reference" : "Patient/PatientFemale"
  },
  "effectiveDateTime" : "2024-06-26",
  "performer" : [{
    "reference" : "Organization/Organization"
  },
  {
    "reference" : "Practitioner/PractitionerLabDirector"
  }],
  "specimen" : [{
    "reference" : "Specimen/PrenatalSpecimenPatientFemale"
  }],
  "result" : [{
    "reference" : "Observation/PrenatalVariantFactorXiDeficiencyPatientFemale"
  },
  {
    "reference" : "Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientFemale"
  },
  {
    "reference" : "Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientFemale"
  },
  {
    "reference" : "Observation/PrenatalVariant2SNPHereditaryHemochromatoPatientFemale"
  },
  {
    "reference" : "Observation/PrenatalVariantPrimaryHyperoxaluriaPatientFemale"
  },
  {
    "reference" : "Observation/PrenatalVariant1FragileXSyndromePatientFemale"
  },
  {
    "reference" : "Observation/PrenatalVariant2FragileXSyndromePatientFemale"
  },
  {
    "reference" : "Observation/PrenatalDiagImpFactorXiDeficiencyPatientFemale",
    "display" : "Normal genetic findings (finding)"
  },
  {
    "reference" : "Observation/PrenatalDiagImpGlycogenStorageDiseasePatientFemale",
    "display" : "Normal genetic findings (finding)"
  },
  {
    "reference" : "Observation/PrenatalDiagImpHereditaryHemochromatoPatientFemale",
    "display" : "Genetic disease (disorder)"
  },
  {
    "reference" : "Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale",
    "display" : "Normal genetic findings (finding)"
  },
  {
    "reference" : "Observation/PrenatalDiagImpFragileXSyndromePatientFemale",
    "display" : "Genetic disorder carrier (finding)"
  }],
  "conclusion" : "Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome",
  "conclusionCode" : [{
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA6576-8",
      "display" : "Positive"
    }]
  }]
}