{
  "resourceType" : "DiagnosticReport",
  "id" : "mii-exa-molgen-befundbericht-comprehensive-wes",
  "meta" : {
    "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2027.0.0-ballot.1",
    "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"]
  },
  "language" : "de",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-comprehensive-wes</b></p><a name=\"de-mii-exa-molgen-befundbericht-comprehensive-wes\"> </a><a name=\"de-hcmii-exa-molgen-befundbericht-comprehensive-wes\"> </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\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-molekulargenetischer-befundbericht.html\">MII PR MolGen Molekulargenetischer Befundbericht</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html\">Genomic Report</a> version: 3.0.0</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>Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</td></tr><tr><td>Performer</td><td> <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</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>Relevant Time</b></td></tr><tr><td><a href=\"Observation-mii-exa-molgen-variante-comprehensive-pathogenic.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>2024-01-10</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-diagnostische-implikation-comprehensive.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>2024-01-10</td></tr></table><p>Whole exome sequencing identified a pathogenic de novo variant in the KMT2A gene, consistent with Wiedemann-Steiner syndrome. This explains the patient's developmental delay and dysmorphic features. Technical quality metrics met all acceptance criteria.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
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    "valueReference" : {
      "reference" : "Procedure/mii-exa-molgen-genomic-study-comprehensive-wes"
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  },
  {
    "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
    "valueRelatedArtifact" : {
      "type" : "documentation",
      "label" : "GATK Best Practices for Germline SNP & Indel Discovery",
      "url" : "https://gatk.broadinstitute.org/hc/en-us/articles/360035535932"
    }
  },
  {
    "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note",
    "valueAnnotation" : {
      "extension" : [{
        "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/annotation-code",
        "valueCodeableConcept" : {
          "text" : "Quality Metrics"
        }
      }],
      "text" : "Mean coverage: 120X, 98.5% of bases >20X, 95.2% of target regions callable. Q30 bases: 92%. Contamination estimate: <1%. Sample identity confirmed by SNP fingerprinting."
    }
  }],
  "basedOn" : [{
    "reference" : "ServiceRequest/mii-exa-molgen-anforderung-wes"
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  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE",
      "display" : "Genetics"
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  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "51969-4",
      "display" : "Genetic analysis report"
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  "subject" : {
    "reference" : "Patient/mii-exa-molgen-patient"
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  "performer" : [{
    "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
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  "specimen" : [{
    "reference" : "Specimen/mii-exa-molgen-specimen-blood-edta"
  }],
  "result" : [{
    "reference" : "Observation/mii-exa-molgen-variante-comprehensive-pathogenic"
  },
  {
    "reference" : "Observation/mii-exa-molgen-diagnostische-implikation-comprehensive"
  }],
  "media" : [{
    "comment" : "Coverage plot showing uniform coverage across all exons",
    "link" : {
      "reference" : "Media/mii-exa-molgen-media-coverage-plot"
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  }],
  "conclusion" : "Whole exome sequencing identified a pathogenic de novo variant in the KMT2A gene, consistent with Wiedemann-Steiner syndrome. This explains the patient's developmental delay and dysmorphic features. Technical quality metrics met all acceptance criteria.",
  "conclusionCode" : [{
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      "system" : "http://loinc.org",
      "code" : "LA6576-8",
      "display" : "Positive"
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}