GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON

: PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale - XML Representation

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<Procedure xmlns="http://hl7.org/fhir">
  <id value="PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale"/>
  <meta>
    <versionId value="1"/>
    <lastUpdated value="2024-10-02T03:41:34.767+00:00"/>
    <source value="#JVN7S7CW0og8nwN0"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Procedure PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale</b></p><a name="PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale"> </a><a name="hcPrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale"> </a><a name="PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale-en-US"> </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">version: 1; Last updated: 2024-10-02 03:41:34+0000; </p><p style="margin-bottom: 0px">Information Source: #JVN7S7CW0og8nwN0</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-genomic-study-analysis.html">Genomic Study Analysis</a></p></div><p><b>org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p><p><b>Genomic Study Analysis Genome Build</b>: <span title="Codes:{http://loinc.org LA14029-5}">GRCh37</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: Genes studied</li><li>studied: <span title="Codes:{http://www.genenames.org HGNC:3775}">FMR1</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org 36913-2}">FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method</span></p><p><b>status</b>: Completed</p><p><b>subject</b>: <a href="Patient-PatientFemale.html">Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))</a></p><p><b>performed</b>: 2024-06-26</p><p><b>note</b>: fragile X syndrome - FMR1. X-linked inheritance (recessive). triplet repeat detection. Detection rate: Northern European &gt;99%, No disease-causing mutations were detected in any other gene tested for fragile X syndrome, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024</p></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6683-2"/>
        <display value="Germline"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA14029-5"/>
        <display value="GRCh37"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions">
    <extension url="description">
      <valueString value="Genes studied"/>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org"/>
          <code value="HGNC:3775"/>
          <display value="FMR1"/>
        </coding>
      </valueCodeableConcept>
    </extension>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="36913-2"/>
        <display
                 value="FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <status value="completed"/>
  <subject>🔗 
    <reference value="Patient/PatientFemale"/>
  </subject>
  <performedDateTime value="2024-06-26"/>
  <note>
    <text
          value="fragile X syndrome - FMR1. X-linked inheritance (recessive). triplet repeat detection. Detection rate: Northern European &gt;99%"/>
  </note>
  <note>
    <text
          value="No disease-causing mutations were detected in any other gene tested for fragile X syndrome"/>
  </note>
  <note>
    <text
          value="Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024"/>
  </note>
  <note>
    <text
          value="Report content approved by Krista Moyer, MGC on Jun 26, 2024"/>
  </note>
</Procedure>