Diagnosticreport-hla-genetics-results-example.xml

An example of a HLA genotyping results report (id = "hla-1")

<DiagnosticReport xmlns="http://hl7.org/fhir">
    <id value="hla-1"/>
    <text>
      <status value="extensions"/>
      <div xmlns="http://www.w3.org/1999/xhtml">
        <h3>HLA-A,-B,-C Genotyping Report for Marry Chalmers (MRN: 12345) </h3>
        <pre>
        Gene      Allele 1          Allele 2
        HLA-A     HLA-A*01:01:01:01     HLA-A*01:02
        HLA-B     HLA-B*15:01:01:01     HLA-B*57:01:01
        HLA-C     HLA-C*01:02:01        HLA-C*03:04:01:01
        </pre>
        <p>Allele assignments based on IMGT/HLA 3.23</p>
        <p>Issued: 2015-05-26T15:30:10+01:00</p>
        <p>Method: Next-Generation Sequencing of exons 2 and 3 of HLA Class I genes</p>
        <p>Lab: ACME labs, Inc</p>
        <p>Please refer the <a href="genomics.html#hla">implementation guide </a> for this usage example.</p>
      </div>
    </text>
    <!--  
    <extension xmlns="http://hl7.org/fhir" url="http://hl7.org/fhir/StructureDefinition/hla-genotypi
  ng-resultsAlleleAsignmentDate">
      <valueDate value="2014-05-16"/>
    </extension>
      -->
    <extension url="http://hl7.org/fhir/StructureDefinition/hla-genotyping-resultsAlleleDatabase">
      <valueCodeableConcept>
        <coding>
        <system value="http://www.ebi.ac.uk/ipd/imgt/hla/"/>
        <version value="3.23"/>
        </coding>
        <text value="IMGT/HLA 3.23"/>
      </valueCodeableConcept>
    </extension>
    <extension url="http://hl7.org/fhir/StructureDefinition/hla-genotyping-resultsGlstring">
      <extension url="text">
        <valueString value="HLA-A*01:01:01:01+HLA-A*01:02^HLA-B*15:01:01:01+HLA-B*57:01:01^HLA-C*01:02:01+HLA-C*03:04:01:01"/>
      </extension>
      <extension url="uri">
        <valueUri value="https://gl.nmdp.org/imgt-hla/3.23.0/multilocus-unphased-genotype/i"/>
      </extension>
    </extension>
    <extension url="http://hl7.org/fhir/StructureDefinition/hla-genotyping-resultsMethod">
      <valueCodeableConcept>
        <coding>
        <system value="http://www.ncbi.nlm.nih.gov/gtr/"/>
        <code value="GTR000000000.0"/>
        </coding>
        <text value="Next Generation Sequencing of exons 2 and 3 of HLA Class I genes"/>
      </valueCodeableConcept>
    </extension>
    <status value="final"/>
    <category>
      <coding>
        <system value="http://hl7.org/fhir/ValueSet/diagnostic-service-sections"/>
        <code value="GE"/>
        <display value="Genetics"/>
      </coding>
    </category>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53767-0"/>
        <display value="HLA-A+B+C SBT [Interpretation] by High resolution"/>
      </coding>
    </code>
    <subject>
      <reference value="Patient/123"/>
      <display value="Mary Chalmers"/>
    </subject>
    <effectiveDateTime value="2015-05-26T15:30:10+01:00"/>
    <issued value="2014-05-16T10:28:00+01:00"/> 
    <request>
      <reference value="DiagnosticRequest/789"/>
      <display value="Order for HLA-A,-B,-C genotyping"/>
    </request>
    <specimen>
      <reference value="Specimen/456"/>
      <display value="buccal swab"/>
    </specimen>
    <result>
      <reference value="Observation/111"/>
      <display value="Genotype Observation for for HLA-A"/>
    </result>
    <result>
      <reference value="Observation/222"/>
      <display value="Genotype Observation for for HLA-B"/>
    </result>
    <result>
      <reference value="Observation/333"/>
      <display value="Genotype Observation for for HLA-C"/>
    </result>
</DiagnosticReport>