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Template Genetic Testing Report 2013‑02‑01

Id2.16.840.1.113883.10.20.20Effective Date2013‑02‑01
Statusdraft DraftVersion Label
NameGeneticTestingReportDisplay NameGenetic Testing Report
Description
The GeneticTestingReport is a CDA document template and thus serves as the root template for the GTR Implementation Guide. Its organization is described in the Approach section of this guide. The GTR direct subsections constitute the backbone of the GTR. It shall start with a summary section and may end with general information about the tests performed; between these two sections there are the specialized sections (represented by TestDetailsSection) describing specific genetic testing performed. TestDetailsSection serves as a blueprint of specialized sections describing testing like genetic variation, cytogenetics or gene expression.
The overall structure of GeneticTestingReport is depicted in chart 1 of the slide deck enclosed in the GTR package.
ContextParent nodes of template element with id 2.16.840.1.113883.10.20.20
ClassificationCDA Document Level Template
Open/ClosedOpen (other than defined elements are allowed)
Used by / Uses
Used by 1 transaction and 0 templates, Uses 17 templates
Used by as NameVersion
2.16.840.1.113883.3.1937.777.20.4.2Transactiondraft Genetic Testing Report (GTR) (DSTU Release 1)2018‑03‑22 11:37:04
Uses as NameVersion
2.16.840.1.113883.10.12.101Includeactive CDA recordTargetDYNAMIC
2.16.840.1.113883.10.12.102Includeactive CDA authorDYNAMIC
2.16.840.1.113883.10.12.103Includeactive CDA dataEntererDYNAMIC
2.16.840.1.113883.10.12.104Includeactive CDA custodianDYNAMIC
2.16.840.1.113883.10.12.105Includeactive CDA informationRecipientDYNAMIC
2.16.840.1.113883.10.12.106Includeactive CDA legalAuthenticatorDYNAMIC
2.16.840.1.113883.10.12.107Includeactive CDA authenticatorDYNAMIC
2.16.840.1.113883.10.12.108Includeactive CDA participantDYNAMIC
2.16.840.1.113883.10.12.109Includeactive CDA inFulfillmentOfDYNAMIC
2.16.840.1.113883.10.12.110Includeactive CDA documentationOfDYNAMIC
2.16.840.1.113883.10.12.111Includeactive CDA relatedDocumentDYNAMIC
2.16.840.1.113883.10.12.113Includeactive CDA componentOfDYNAMIC
2.16.840.1.113883.10.12.114Includeactive CDA AuthorizationDYNAMIC
2.16.840.1.113883.10.12.154Includeactive CDA InformantDYNAMIC
2.16.840.1.113883.10.20.20.1.1Containmentdraft Summary SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.8Containmentdraft Test Details SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9Containmentdraft Test Information SectionDYNAMIC
RelationshipSpecialization: template 2.16.840.1.113883.10.12.2 CDA ClinicalDocument (with StructuredBody) (2005‑09‑07)
ref
ad1bbr-
Example
Example
<cda:ClinicalDocument xsi:schemaLocation="urn:hl7-org:v3 CDA.xsd">
  <!--
********************************************************
CDA Header
********************************************************
-->
  <cda:typeId root="2.16.840.1.113883.1.3" extension="POCD_HD000040"/>  <cda:templateId root="2.16.840.1.113883.10.20.20"/>  <cda:id extension="c266" root="2.16.840.1.113883.18.12.7.30.9.1"/>  <cda:code code="51969-4" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic analysis summary report"/>  <cda:title>Hearing Loss: Connexin 26 and 30 Full Gene Sequencing Panel Test Report</cda:title>  <cda:effectiveTime value="20100809"/>  <cda:confidentialityCode code="R" codeSystem="2.16.840.1.113883.5.25"/>  <cda:languageCode code="en-US"/>  <cda:setId extension="BB35" root="2.16.840.1.113883.19.7"/>  <cda:versionNumber value="1"/>  <cda:recordTarget>
    <cda:patientRole>
      <cda:id root="2.16.840.1.113883.18.12.7.30.9.2" extension="123456789"/>      <cda:patient>
        <cda:name use="L">
          <cda:given>John</cda:given>          <cda:given>Q.</cda:given>          <cda:family>Doe</cda:family>        </cda:name>        <cda:administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1" codeSystemName="AdministrativeGender" displayName="Male"/>        <cda:birthTime value="19470505"/>      </cda:patient>      <cda:providerOrganization>
        <cda:id root="2.16.840.1.113883.19.3.2409"/>        <cda:name>The New Hospital</cda:name>      </cda:providerOrganization>    </cda:patientRole>  </cda:recordTarget>  <cda:author>
    <!-- AUT = the report writer -->
    <cda:functionCode code="AUT" displayName="author (originator)"/>    <cda:time/>    <cda:assignedAuthor>
      <!-- id identifies the person in that role within the organization -->
      <cda:id root="2.16.840.1.113883.19.3.2409.123" extension="author123"/>      <!-- the code GEN will be proposed to be added to the HL7 RoleCode
vocabulry representing a Geneticist-->
      <cda:code code="GEN" displayName="Geneticist" nullFlavor="OTH"/>      <cda:assignedPerson>
        <cda:name>Jean Geome</cda:name>      </cda:assignedPerson>      <cda:representedOrganization>
        <cda:id root="2.16.840.1.113883.19.3.2409" extension="2DD1005307"/>      </cda:representedOrganization>    </cda:assignedAuthor>  </cda:author>  <!-- custodian is the legal record keeper for this document-->
  <cda:custodian>
    <cda:assignedCustodian>
      <cda:representedCustodianOrganization>
        <cda:id root="2.16.840.1.113883.19.3.2409"/>      </cda:representedCustodianOrganization>    </cda:assignedCustodian>  </cda:custodian>  <!-- even if the legal authenticator is the same person as the author, it
needs the construct below which also has the signature code element-->
  <cda:legalAuthenticator>
    <cda:time value="20060212"/>    <cda:signatureCode code="S"/>    <cda:assignedEntity>
      <cda:id root="2.16.840.1.113883.19.3.2409.123" extension="ABCD191928-1" displayable="true"/>      <cda:code code="AUT" displayName="Author"/>      <cda:assignedPerson>
        <cda:name>Jean Legal Genome</cda:name>      </cda:assignedPerson>      <cda:representedOrganization>
        <cda:id root="2.16.840.1.113883.19.3.2409.123" extension="2DD1005307" displayable="true"/>        <cda:name>The New Genetic Testing Laboratory of the New Hospital</cda:name>      </cda:representedOrganization>    </cda:assignedEntity>  </cda:legalAuthenticator>  <!-- the "documentationOf" element is a pointer to the 'genetic testing
service' which this document summarizes;
The id attribute can hold for example the genetic lab accesssion number -->
  <cda:documentationOf>
    <cda:serviceEvent>
      <cda:id root="2.16.840.1.113883.19.3.2409" extension="ABCD-1234"/>      <cda:performer typeCode="PRF">
        <cda:assignedEntity>
          <cda:id root="2.16.840.1.113883.19.3.2409.123"/>          <cda:representedOrganization>
            <cda:name>The New Genetic Testing Laboratory the New Hospital</cda:name>          </cda:representedOrganization>        </cda:assignedEntity>      </cda:performer>    </cda:serviceEvent>  </cda:documentationOf>  <!--
********************************************************
CDA Body
********************************************************
-->
  <cda:component>
    <cda:structuredBody>
      <!--
********************************************************************
Summary Section
********************************************************************
-->
      <cda:component>
        <cda:section>
          <cda:templateId root="2.16.840.1.113883.10.20.20.1.1"/>          <cda:title>Summary</cda:title>          <!--
********************************************************************
Indications Section
********************************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.11"/>              <cda:title>Indications</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content ID="a2">Indication: Profound sensorineural hearing loss</cda:content>                  </cda:item>                </cda:list>              </cda:text>              <cda:entry>
                <cda:observation classCode="COND" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <cda:code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>                  <cda:value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">
                    <cda:originalText>
                      <cda:reference value="#a2"/>                    </cda:originalText>                  </cda:value>                  <!-- the following reference could point to the full description of
the disease if residing in the patient records -->
                  <cda:reference typeCode="XCRPT">
                    <cda:externalObservation>
                      <cda:id root="2.16.840.1.113883.19.1.2765"/>                    </cda:externalObservation>                  </cda:reference>                </cda:observation>              </cda:entry>            </cda:section>          </cda:component>          <!--
********************************************************************
Summary of Tests Performed
********************************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>              <cda:title>Summary of Tests Performed</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content ID="a1">
GJB2 Full Gene Test
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content ID="a5">
GJB6-D13S1830 deletion
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content ID="a3">
Mitochondrial Hearing Loss Mutation Test
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <!--
**************************************
Overall Interpretation section
**************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>              <cda:title>Overall Interpretation</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content styleCode="Bold">Inconclusive.</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
DNA sequencing detected two changes in the GJB2 gene, 79G>A
(V27I) and 109G>A (V37I). The V27I change has been reported as a benign
variant (references) and is not believed to cause hearing loss. The V37I
mutation has been previously reported in patients with hearing loss. This
mutation, in homozygosity or combined with another GJB2 disease causing
mutation, typically results in a mild to moderate hearing loss (Cryns
et al. 2005). Mutations in both copies of the GJB2 gene are necessary
to assume that GJB2 is responsible for the hearing loss. Although two
mutations were identified in this patient, we would assume that the
combination of a benign variant and a mild pathogenic mutation would result
in a mild to moderate hearing loss rather than a moderately-severe one, as
in this patient. It is most likely that the hearing loss in this patient is
the result of the V37I mutation and an unknown second pathogenic mutation.
It should be noted that a second mutation is not identified in a large
percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2
mutations (del Castillo et al. 2003).
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830
region of chromosome 13 was performed and did not detect the deletion.
This test does not assess the DNA sequence of the GJB6 gene or detect other
mutations that could affect the expression of the gene.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Mitochondrial Hearing Loss mutations: Targeted bidirectional
sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the
presence of these mutations.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>              <cda:entry>
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.4"/>                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>                  <cda:code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>                  <cda:statusCode code="completed"/>                  <cda:entryRelationship typeCode="SUBJ">
                    <!-- Genomic observation battery (references only) -->
                    <cda:organizer classCode="BATTERY" moodCode="EVN">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.5.1"/>                      <cda:statusCode code="completed"/>                      <cda:component>
                        <!-- reference to the actual finding-->
                        <cda:observation classCode="OBS" moodCode="EVN">
                          <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>                          <cda:code/>                        </cda:observation>                      </cda:component>                      <cda:component>
                        <!-- reference to the actual finding-->
                        <cda:observation classCode="OBS" moodCode="EVN">
                          <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>                          <cda:code/>                        </cda:observation>                      </cda:component>                      <cda:component>
                        <!-- reference to the actual finding-->
                        <cda:observation classCode="OBS" moodCode="EVN">
                          <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>                          <cda:code/>                        </cda:observation>                      </cda:component>                      <cda:component>
                        <!-- reference to the actual finding-->
                        <cda:observation classCode="OBS" moodCode="EVN">
                          <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>                          <cda:code/>                        </cda:observation>                      </cda:component>                    </cda:organizer>                  </cda:entryRelationship>                  <cda:entryRelationship typeCode="RSON">
                    <cda:observation classCode="COND" moodCode="EVN">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <cda:code/>                    </cda:observation>                  </cda:entryRelationship>                  <cda:entryRelationship typeCode="SPRT">
                    <cda:observation classCode="OBS" moodCode="DEF">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.2.5.5"/>                      <cda:code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>                      <cda:statusCode code="completed"/>                      <cda:effectiveTime value="200512011500"/>                      <cda:value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>                      <!-- this is an example of how it is possible to override the
header performer with a different performer, in this case of the analysis
that led to the overall interpretation-->
                      <cda:performer typeCode="PRF">
                        <cda:assignedEntity>
                          <cda:id root="2.16.840.1.113883.19.3.2409.345"/>                          <cda:representedOrganization>
                            <cda:name>The New Genetic Testing Analysis Service</cda:name>                          </cda:representedOrganization>                        </cda:assignedEntity>                      </cda:performer>                    </cda:observation>                  </cda:entryRelationship>                </cda:observation>              </cda:entry>            </cda:section>          </cda:component>          <!--
********************************************************
Recommendations section
********************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>              <cda:title>Recommendations</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Although some cases may represent a coincidental carrier state, all of the
studies have concluded that there are likely to be other genetic mutations
that have not yet been identified. Genetic counseling is recommended for
this patient and his/her family members.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <!--
********************************************************************
Specimen Section
********************************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.7"/>              <cda:title>Specimen and Genomic Source Class</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>Peripheral Blood</cda:item>                  <cda:item>Genomic source class: Germline</cda:item>                </cda:list>              </cda:text>              <cda:entry>
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.3.2"/>                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <cda:code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>                  <cda:value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>                  <cda:specimen>
                    <cda:templateId root="2.16.840.1.113883.10.20.20.3.1"/>                    <cda:specimenRole>
                      <cda:specimenPlayingEntity>
                        <cda:code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>                      </cda:specimenPlayingEntity>                    </cda:specimenRole>                  </cda:specimen>                </cda:observation>              </cda:entry>            </cda:section>          </cda:component>        </cda:section>      </cda:component>      <!--
********************************************************************
Genetic Variations Section: Connexin 26 Full Gene Test
********************************************************************
-->
      <cda:component>
        <cda:section>
          <cda:templateId root="2.16.840.1.113883.10.20.20.1.8"/>          <cda:title>Genetic Variations</cda:title>          <!-- Structured representation of: Homozygous 109G>A (V37I), Exon 2,
GJB2, Pathogenic -->
          <cda:entry>
            <cda:observation classCode="OBS" moodCode="EVN">
              <cda:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>              <cda:code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>              <cda:statusCode code="completed"/>              <cda:effectiveTime value="200512011500"/>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <cda:code/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>                  <cda:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <cda:value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>                  <cda:code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>                  <cda:value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>                  <cda:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <cda:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>                  <cda:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <cda:value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>                  <cda:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <cda:value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>                  <cda:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <cda:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>                  <cda:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <cda:value xsi:type="CD" code="Val37Ile"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>                  <cda:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <cda:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>                  <cda:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <cda:value xsi:type="ST">Exon 2</cda:value>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>                  <cda:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <cda:value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>                </cda:observation>              </cda:entryRelationship>              <!-- pointing to the indication of performing this variation
testing-->
              <cda:entryRelationship typeCode="RSON">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <cda:code/>                </cda:observation>              </cda:entryRelationship>              <!-- interpretation of the variation observation (should consider if
MFST=manifistation as the code here) -->
              <cda:entryRelationship typeCode="SPRT">
                <cda:observation classCode="OBS" moodCode="DEF">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <cda:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <cda:value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>                </cda:observation>              </cda:entryRelationship>            </cda:observation>          </cda:entry>          <!-- Structured representation of: Heterozygous 79G>A (V27I), Exon 2,
GJB2, Benign-->
          <cda:entry>
            <cda:observation classCode="OBS" moodCode="EVN">
              <cda:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>              <cda:code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>              <cda:statusCode code="completed"/>              <cda:effectiveTime value="200512011500"/>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <cda:code/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <cda:value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <cda:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <cda:value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <cda:value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <cda:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <cda:value xsi:type="CD" code="Val27Ile"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <cda:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <cda:value xsi:type="ST">Exon 2</cda:value>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <cda:value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>                </cda:observation>              </cda:entryRelationship>              <!-- pointing to the indication of performing this variation
testing-->
              <cda:entryRelationship typeCode="RSON">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <cda:code/>                </cda:observation>              </cda:entryRelationship>              <!-- interpretation of the variation observation-->
              <cda:entryRelationship typeCode="SPRT">
                <cda:observation classCode="OBS" moodCode="DEF">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <cda:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <cda:value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>                </cda:observation>              </cda:entryRelationship>            </cda:observation>          </cda:entry>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <cda:title>Tests Performed</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
GJB2 Full Gene Test
</cda:content>                  </cda:item>                </cda:list>              </cda:text>              <cda:entry>
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <cda:code displayName="Test Performed"/>                  <cda:statusCode code="completed"/>                  <cda:effectiveTime value="200512011500"/>                  <cda:value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <cda:originalText>
                      <cda:reference value="#a1"/>                    </cda:originalText>                  </cda:value>                  <cda:entryRelationship typeCode="RSON">
                    <cda:observation classCode="COND" moodCode="EVN">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the
test-->
                      <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <cda:code/>                    </cda:observation>                  </cda:entryRelationship>                </cda:observation>              </cda:entry>            </cda:section>          </cda:component>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <cda:title>Findings</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <cda:title>Interpretation</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>Mutations interpretation</cda:content>                    <cda:list>
                      <cda:item>
                        <cda:content>V37I - Pathogenic</cda:content>                      </cda:item>                      <cda:item>
                        <cda:content>V27I - Benign</cda:content>                      </cda:item>                    </cda:list>                  </cda:item>                  <cda:item>
                    <cda:content>
Details: DNA sequencing detected two mutations in the GJB2 gene, 79G>A
(V27I) and 109G>A (V37I). The V27I mutation has been reported as a benign
variant (references) and is not believed to cause hearing loss. The V37I
mutation has been previously reported in patients with hearing loss. This
mutation, in homozygosity or combined with another GJB2 disease causing
mutation, typically results in a mild to moderate hearing loss (Cryns
et al. 2005). Mutations in both copies of the GJB2 gene are necessary
to assume that GJB2 is responsible for the hearing loss. Although two
mutations were identified in this patient, we would assume that the
combination of a benign variant and a mild pathogenic mutation would result
in a mild to moderate hearing loss rather than a moderately-severe one, as
in this patient. It is most likely that the hearing loss in this patient is
the result of the V37I mutation and an unknown second pathogenic mutation.
It should be noted that a second mutation is not identified in a large
percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2
mutations (del Castillo et al. 2003).
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>        </cda:section>      </cda:component>      <!--
********************************************************************
Genetic Variations Section: Connexin 30 Deletion Test
********************************************************************
-->
      <cda:component>
        <cda:section>
          <cda:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <cda:title>Genetic Variations</cda:title>          <cda:entry>
            <!-- The core genomic observation (the 'finding')-->
            <cda:observation classCode="COND" moodCode="EVN">
              <cda:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>              <cda:code code="51959-5" displayName="DNA region of interest"/>              <cda:statusCode code="completed"/>              <cda:effectiveTime value="200512011500"/>              <cda:value xsi:type="CD" code="GJB6-D13S1830"/>              <cda:entryRelationship typeCode="SUBJ">
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <cda:code/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="COMP">
                <!-- negationInd is set to "true" to signify that the deletion of
the DNA region at stake was not found-->
                <cda:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <cda:code code="48019-4" displayName="DNA Sequence Variation type"/>                  <cda:value xsi:type="CD" code="LA6692-3" displayName="Deletion"/>                </cda:observation>              </cda:entryRelationship>              <cda:entryRelationship typeCode="RSON">
                <cda:observation classCode="COND" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the indication for the
test-->
                  <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <cda:code/>                </cda:observation>              </cda:entryRelationship>            </cda:observation>          </cda:entry>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <cda:title>Tests Performed</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
GJB6-D13S1830 Deletion Test
</cda:content>                  </cda:item>                </cda:list>              </cda:text>              <cda:entry>
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <cda:code displayName="Test Performed"/>                  <cda:statusCode code="completed"/>                  <cda:effectiveTime value="200512011500"/>                  <cda:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 30 Deletion Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <cda:originalText>
                      <cda:reference value="#a5"/>                    </cda:originalText>                  </cda:value>                </cda:observation>              </cda:entry>            </cda:section>          </cda:component>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <cda:title>Findings</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Negative
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <cda:title>Interpretation</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-
D13S1830 region of chromosome 13 was performed and did not detect the
deletion. This test does not assess the DNA sequence of the GJB6 gene or
detect other mutations that could affect the expression of the gene.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>        </cda:section>      </cda:component>      <!--
*******************************************************************************
Genetic Variations Section: Mitochondrial Hearing Loss Genes Test
*******************************************************************************
-->
      <cda:component>
        <cda:section>
          <cda:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <cda:title>Genetic Variations</cda:title>          <cda:entry>
            <!-- The core genomic observation (the 'finding')-->
            <cda:observation classCode="OBS" moodCode="EVN">
              <cda:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <cda:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>              <cda:code code="48018-6" displayName="Gene identifier"/>              <cda:statusCode code="completed"/>              <cda:effectiveTime value="200512011500"/>              <cda:value xsi:type="CD" code="MTTS1"/>              <cda:entryRelationship typeCode="COMP">
                <!-- no mutations were found-->
                <cda:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <cda:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <cda:entryRelationship typeCode="SUBJ">
                    <cda:observation classCode="OBS" moodCode="EVN">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                      <cda:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <cda:code/>                    </cda:observation>                  </cda:entryRelationship>                </cda:observation>              </cda:entryRelationship>            </cda:observation>          </cda:entry>          <cda:entry>
            <cda:observation classCode="OBS" moodCode="EVN">
              <cda:code code="48018-6" displayName="Gene identifier"/>              <cda:statusCode code="completed"/>              <cda:effectiveTime value="200512011500"/>              <cda:value xsi:type="CD" code="MTRNR1"/>              <cda:entryRelationship typeCode="COMP">
                <!-- no mutations were found-->
                <cda:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <cda:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <cda:entryRelationship typeCode="SUBJ">
                    <cda:observation classCode="OBS" moodCode="EVN">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                      <cda:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <cda:code/>                    </cda:observation>                  </cda:entryRelationship>                </cda:observation>              </cda:entryRelationship>            </cda:observation>          </cda:entry>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <cda:title>Tests Performed</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Mitochondrial Hearing Loss Genes Test
</cda:content>                  </cda:item>                </cda:list>              </cda:text>              <cda:entry>
                <cda:observation classCode="OBS" moodCode="EVN">
                  <cda:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <cda:code displayName="Test Performed"/>                  <cda:statusCode code="completed"/>                  <cda:effectiveTime value="200512011500"/>                  <cda:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="MTTS1 and MTRNR1 Genes Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <cda:originalText>
                      <cda:reference value="#a3"/>                    </cda:originalText>                  </cda:value>                  <cda:entryRelationship typeCode="RSON">
                    <cda:observation classCode="COND" moodCode="EVN">
                      <cda:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the
test-->
                      <cda:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <cda:code/>                    </cda:observation>                  </cda:entryRelationship>                </cda:observation>              </cda:entry>            </cda:section>          </cda:component>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <cda:title>Findings</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Negative
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <cda:title>Interpretation</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
DNA sequencing did not detect the presence of any mutations in
the MTTS1 and MTRNR1 genes.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>        </cda:section>      </cda:component>      <!--
********************************************************
Test Information section
********************************************************
-->
      <cda:component>
        <cda:section>
          <cda:templateId root="2.16.840.1.113883.10.20.20.1.9"/>          <cda:title>Test Information</cda:title>          <!--
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Background section
********************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>              <cda:title>Background</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Mutations in the GJB2 (connexin 26) gene are the most common cause of
non syndromic hearing loss and are most often seen in a person with
hearing loss that was found in early childhood without any other medical
problems. The severity of the hearing loss can range from mild to profound.
The inheritance pattern is usually autosomal recessive, requiring two
mutations, one in each copy of the gene, to cause hearing loss. The GJB6-
D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin
30 protein (Cx30). This deletion, when present in two copies or when
combined with a single connexin 26 mutation, causes hearing loss. Although
the frequency of mitochondrial hearing loss is unknown, studies suggest
that mitochondrial mutations play an important role in inherited and
acquired hearing impairment.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <!--
********************************************************
Methodology section
********************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>              <cda:title>Methodology</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are
amplified using flanking primer sets. PCR products are sequenced using
an ABI fluorescence automatic DNA sequencer. This test does not detect
large deletions or mutations in non-coding regions that could affect
gene expression. This assay is greater than 99.9% accurate in detecting
mutations in the sequences analyzed. Polymerase chain reaction (PCR)
analysis is performed to detect the presence or absence of a deletion
spanning the GJB6-D13S1830 region of chromosome 13.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>          <!--
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References section
********************************************************
-->
          <cda:component>
            <cda:section>
              <cda:templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>              <cda:title>References</cda:title>              <cda:text>
                <cda:list>
                  <cda:item>
                    <cda:content>
Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del
Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing
allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S,
Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E,
Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich
D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL,
Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and
evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus
in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:
1452-1458.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling
WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal
recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in
patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg.
2001 Sep;127(9):1037-42.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants
and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med.
2002;4(4): 258-74.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated
with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz
M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British
Asian families. J Med Genet. 2001 Aug;38(8):530-3.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1
(Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics
Information Resource (database online). http://www.genetests.org.
</cda:content>                  </cda:item>                  <cda:item>
                    <cda:content>
Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J,
Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P,
Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR,
Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin
M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz
M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M,
Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F,
Mondain M, Hoefsloot, LH Cremers CWRJ, Löppönen T, Löppönen H, Parving A,
Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G,
Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P,
Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation
for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57.
</cda:content>                  </cda:item>                </cda:list>              </cda:text>            </cda:section>          </cda:component>        </cda:section>      </cda:component>    </cda:structuredBody>  </cda:component></cda:ClinicalDocument>
ItemDTCardConfDescriptionLabel
hl7:ClinicalDocument
Genedotsport
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hl7:realmCode
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hl7:typeId
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@root
uid1 … 1F2.16.840.1.113883.1.3
@extension
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hl7:templateId
II1 … 1MGenedotsport
@root
uid1 … 1F2.16.840.1.113883.10.20.20
hl7:id
II1 … 1RGenedotsport
hl7:code
CE1 … 1RCONFdotsTR‑1
@code
CONF0 … 1F51969-4
@codeSystem
0 … 1F2.16.840.1.113883.6.1
@displayName
0 … 1FGenetic analysis summary report
hl7:title
1 … 1RDefault title is "Genetic Testing Report".CONFdotsTR‑7
hl7:effectiveTime
TS1 … 1RGenedotsport
hl7:confidentialityCode
CE1 … 1RGenedotsport
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.16926 x_BasicConfidentialityKind (DYNAMIC)
hl7:languageCode
CS0 … 1Genedotsport
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC)
hl7:setId
II0 … 1Genedotsport
hl7:versionNumber
INT0 … 1Genedotsport
Included1 … * from 2.16.840.1.113883.10.12.101 CDA recordTarget (DYNAMIC)
hl7:recordTarget
1 … *CDArdotsrget
@typeCode
cs0 … 1FRCT
@contextControlCode
cs0 … 1FOP
hl7:patientRole
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hl7:id
II1 … *CDArdotsrget
hl7:addr
AD0 … *CDArdotsrget
hl7:telecom
TEL0 … *CDArdotsrget
hl7:patient
0 … 1CDArdotsrget
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … 1CDArdotsrget
hl7:name
PN0 … *CDArdotsrget
hl7:administrativeGenderCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.1 AdministrativeGender (DYNAMIC)
hl7:birthTime
TS0 … 1CDArdotsrget
hl7:maritalStatusCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.12212 MaritalStatus (DYNAMIC)
hl7:religiousAffiliationCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.19185 ReligiousAffiliation (DYNAMIC)
hl7:raceCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.14914 Race (DYNAMIC)
hl7:ethnicGroupCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.15836 Ethnicity (DYNAMIC)
hl7:guardian
0 … *CDArdotsrget
@classCode
cs0 … 1FGUARD
hl7:id
II0 … *CDArdotsrget
hl7:code
CE0 … 1CDArdotsrget
 CONF
shall be drawn from concept domain "RoleCode"
hl7:addr
AD0 … *CDArdotsrget
hl7:telecom
TEL0 … *CDArdotsrget
Choice1 … 1Elements to choose from:
hl7:guardianPerson
Contains 2.16.840.1.113883.10.12.152 CDA Person (DYNAMIC)CDArdotsrget
hl7:guardianOrganization
Contains 2.16.840.1.113883.10.12.151 CDA Organization (DYNAMIC)CDArdotsrget
hl7:birthplace
0 … 1CDArdotsrget
@classCode
cs0 … 1FBIRTHPL
hl7:place
1 … 1CDArdotsrget
@classCode
cs0 … 1FPLC
@determinerCode
cs0 … 1FINSTANCE
hl7:name
EN0 … 1CDArdotsrget
hl7:addr
AD0 … 1CDArdotsrget
hl7:languageCommunication
0 … *CDArdotsrget
hl7:languageCode
CS0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC)
hl7:modeCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.12249 LanguageAbilityMode (DYNAMIC)
hl7:proficiencyLevelCode
CE0 … 1CDArdotsrget
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.12199 LanguageAbilityProficiency (DYNAMIC)
hl7:preferenceInd
BL0 … 1CDArdotsrget
hl7:providerOrganization
0 … 1Contains 2.16.840.1.113883.10.12.151 CDA Organization (DYNAMIC)CDArdotsrget
Included1 … * from 2.16.840.1.113883.10.12.102 CDA author (DYNAMIC)
hl7:author
1 … *CDAauthor
@typeCode
cs0 … 1FAUT
@contextControlCode
cs0 … 1FOP
hl7:functionCode
CE0 … 1CDAauthor
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC)
hl7:time
TS1 … 1RCDAauthor
hl7:assignedAuthor
1 … 1CDAauthor
@classCode
cs0 … 1FASSIGNED
hl7:id
II1 … *RCDAauthor
hl7:code
CE0 … 1CDAauthor
 CONF
shall be drawn from concept domain "RoleCode"
hl7:addr
AD0 … *CDAauthor
hl7:telecom
TEL0 … *CDAauthor
Choice0 … 1Elements to choose from:
hl7:assignedPerson
Contains 2.16.840.1.113883.10.12.152 CDA Person (DYNAMIC)CDAauthor
hl7:assignedAuthoringDevice
Contains 2.16.840.1.113883.10.12.315 CDA Device (DYNAMIC)CDAauthor
hl7:representedOrganization
0 … 1Contains 2.16.840.1.113883.10.12.151 CDA Organization (DYNAMIC)CDAauthor
Included0 … 1 from 2.16.840.1.113883.10.12.103 CDA dataEnterer (DYNAMIC)
hl7:dataEnterer
0 … 1CDAddotserer
@typeCode
cs0 … 1FENT
@contextControlCode
cs0 … 1FOP
hl7:time
TS0 … 1CDAddotserer
hl7:assignedEntity
1 … 1Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAddotserer
Included0 … * from 2.16.840.1.113883.10.12.154 CDA Informant (DYNAMIC)
hl7:informant
0 … *CDAidotsmant
@typeCode
cs0 … 1FINF
@contextControlCode
cs0 … 1FOP
Choice1 … 1Elements to choose from:
hl7:assignedEntity
Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAidotsmant
hl7:relatedEntity
Contains 2.16.840.1.113883.10.12.316 CDA RelatedEntity (DYNAMIC)CDAidotsmant
Included1 … 1 from 2.16.840.1.113883.10.12.104 CDA custodian (DYNAMIC)
hl7:custodian
1 … 1CDAcdotsdian
@typeCode
cs0 … 1FCST
hl7:assignedCustodian
1 … 1CDAcdotsdian
@classCode
cs0 … 1FASSIGNED
hl7:representedCustodianOrganization
1 … 1CDAcdotsdian
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II1 … *MCDAcdotsdian
hl7:name
ON0 … 1CDAcdotsdian
hl7:telecom
TEL0 … 1CDAcdotsdian
hl7:addr
AD0 … 1CDAcdotsdian
Included0 … * from 2.16.840.1.113883.10.12.105 CDA informationRecipient (DYNAMIC)
hl7:informationRecipient
0 … *CDAidotsient
@typeCode
cs1 … 1R
 CONF
The value of @typeCode shall be drawn from value set 2.16.840.1.113883.1.11.19366 x_InformationRecipient (DYNAMIC)
hl7:intendedRecipient
1 … 1CDAidotsient
@classCode
cs1 … 1R
 CONF
The value of @classCode shall be drawn from value set 2.16.840.1.113883.1.11.16772 x_InformationRecipientRole (DYNAMIC)
hl7:id
II0 … *RCDAidotsient
hl7:addr
AD0 … *CDAidotsient
hl7:telecom
TEL0 … *CDAidotsient
hl7:informationRecipient
0 … 1Contains 2.16.840.1.113883.10.12.152 CDA Person (DYNAMIC)CDAidotsient
hl7:receivedOrganization
0 … 1Contains 2.16.840.1.113883.10.12.151 CDA Organization (DYNAMIC)CDAidotsient
Included0 … 1 from 2.16.840.1.113883.10.12.106 CDA legalAuthenticator (DYNAMIC)
hl7:legalAuthenticator
0 … 1CDAldotsator
@typeCode
cs0 … 1FLA
@contextControlCode
cs0 … 1FOP
hl7:time
TS1 … 1RCDAldotsator
hl7:signatureCode
CS1 … 1RCDAldotsator
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
hl7:assignedEntity
1 … 1Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAldotsator
Included0 … * from 2.16.840.1.113883.10.12.107 CDA authenticator (DYNAMIC)
hl7:authenticator
0 … *CDAadotsator
@typeCode
cs0 … 1FAUTHEN
hl7:time
TS1 … 1RCDAadotsator
hl7:signatureCode
CS1 … 1RCDAadotsator
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
hl7:assignedEntity
1 … 1Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAadotsator
Included0 … * from 2.16.840.1.113883.10.12.108 CDA participant (DYNAMIC)
hl7:participant
0 … *CDApdotspant
@typeCode
cs1 … 1R
 CONF
The value of @typeCode shall be drawn from value set 2.16.840.1.113883.1.11.10901 ParticipationType (DYNAMIC)
@contextControlCode
cs0 … 1FOP
hl7:functionCode
CE0 … 1CDApdotspant
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC)
hl7:time
IVL_TS0 … 1CDApdotspant
hl7:associatedEntity
1 … 1CDApdotspant
@classCode
cs1 … 1R
 CONF
The value of @classCode shall be drawn from value set 2.16.840.1.113883.1.11.19313 RoleClassAssociative (DYNAMIC)
hl7:id
II0 … *CDApdotspant
hl7:code
CE0 … 1CDApdotspant
 CONF
shall be drawn from concept domain "RoleCode"
hl7:addr
AD0 … *CDApdotspant
hl7:telecom
TEL0 … *CDApdotspant
hl7:associatedPerson
0 … 1Contains 2.16.840.1.113883.10.12.152 CDA Person (DYNAMIC)CDApdotspant
hl7:scopingOrganization
0 … 1Contains 2.16.840.1.113883.10.12.151 CDA Organization (DYNAMIC)CDApdotspant
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0 … *CDAidotsntOf
@typeCode
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hl7:order
1 … 1CDAidotsntOf
@classCode
cs0 … 1FACT
@moodCode
cs1 … 1FRQO
hl7:id
II1 … *RCDAidotsntOf
hl7:code
CE0 … 1CDAidotsntOf
 CONF
shall be drawn from concept domain "ActCode"
hl7:priorityCode
CE0 … 1CDAidotsntOf
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.16866 ActPriority (DYNAMIC)
Included0 … * from 2.16.840.1.113883.10.12.110 CDA documentationOf (DYNAMIC)
hl7:documentationOf
0 … *CDAddotsonOf
@typeCode
cs1 … 1FDOC
hl7:serviceEvent
1 … 1CDAddotsonOf
@classCode
cs1 … 1FACT
@moodCode
cs1 … 1FEVN
hl7:id
II0 … *CDAddotsonOf
hl7:code
CE0 … 1CDAddotsonOf
 CONF
shall be drawn from concept domain "ActCode"
hl7:effectiveTime
IVL_TS0 … 1CDAddotsonOf
hl7:performer
0 … *CDAddotsonOf
@typeCode
cs1 … 1R
 CONF
The value of @typeCode shall be drawn from value set 2.16.840.1.113883.1.11.19601 x_ServiceEventPerformer (DYNAMIC)
hl7:functionCode
CE0 … 1CDAddotsonOf
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC)
hl7:time
IVL_TS0 … 1CDAddotsonOf
hl7:assignedEntity
1 … 1Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAddotsonOf
Included0 … * from 2.16.840.1.113883.10.12.111 CDA relatedDocument (DYNAMIC)
hl7:relatedDocument
0 … *CDArdotsment
@typeCode
cs1 … 1R
 CONF
The value of @typeCode shall be drawn from value set 2.16.840.1.113883.1.11.11610 x_ActRelationshipDocument (DYNAMIC)
hl7:parentDocument
1 … 1CDArdotsment
@classCode
cs0 … 1FDOCCLIN
@moodCode
cs0 … 1FEVN
hl7:id
II1 … *RCDArdotsment
hl7:code
CD0 … 1CDArdotsment
@codeSystem
CONF0 … 1F2.16.840.1.113883.6.1
hl7:text
ED0 … 1CDArdotsment
hl7:setId
II0 … 1CDArdotsment
hl7:versionNumber
INT0 … 1CDArdotsment
Included0 … * from 2.16.840.1.113883.10.12.114 CDA Authorization (DYNAMIC)
hl7:authorization
0 … *CDAadotstion
@typeCode
cs0 … 1FAUTH
hl7:consent
1 … 1CDAadotstion
@classCode
cs0 … 1FCONS
@moodCode
cs0 … 1FEVN
hl7:id
II0 … *CDAadotstion
hl7:code
CE0 … 1CDAadotstion
 CONF
shall be drawn from concept domain "ActCode"
hl7:statusCode
CS1 … 1RCDAadotstion
@code
CONF0 … 1Fcompleted
Included0 … 1 from 2.16.840.1.113883.10.12.113 CDA componentOf (DYNAMIC)
hl7:componentOf
0 … 1CDAcdotsntOf
@typeCode
cs0 … 1FCOMP
hl7:encompassingEncounter
1 … 1CDAcdotsntOf
@classCode
cs0 … 1FENC
@moodCode
cs0 … 1FEVN
hl7:id
II0 … *CDAcdotsntOf
hl7:code
CE0 … 1CDAcdotsntOf
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.13955 ActEncounterCode (DYNAMIC)
hl7:effectiveTime
IVL_TS1 … 1RCDAcdotsntOf
hl7:dischargeDispositionCode
CE0 … 1CDAcdotsntOf
 CONF
shall be drawn from concept domain "EncounterDischargeDisposition"
hl7:responsibleParty
0 … 1Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAcdotsntOf
@typeCode
cs0 … 1FRESP
hl7:encounterParticipant
0 … *CDAcdotsntOf
@typeCode
cs1 … 1R
 CONF
The value of @typeCode shall be drawn from value set 2.16.840.1.113883.1.11.19600 x_EncounterParticipant (DYNAMIC)
hl7:time
IVL_TS0 … 1CDAcdotsntOf
hl7:assignedEntity
1 … 1Contains 2.16.840.1.113883.10.12.153 CDA AssignedEntity (DYNAMIC)CDAcdotsntOf
hl7:location
0 … 1CDAcdotsntOf
@typeCode
cs0 … 1FLOC
hl7:healthCareFacility
1 … 1CDAcdotsntOf
@classCode
cs0 … 1FSDLOC
hl7:id
II0 … *CDAcdotsntOf
hl7:code
CE0 … 1CDAcdotsntOf
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.17660 ServiceDeliveryLocationRoleType (DYNAMIC)
hl7:location
0 … 1Contains 2.16.840.1.113883.10.12.317 CDA Place (DYNAMIC)CDAcdotsntOf
hl7:serviceProviderOrganization
0 … 1Contains 2.16.840.1.113883.10.12.151 CDA Organization (DYNAMIC)CDAcdotsntOf
hl7:component
1 … 1Genedotsport
@typeCode
cs0 … 1FCOMP
@contextConductionInd
bl1 … 1R
hl7:structuredBody
1 … 1Genedotsport
@classCode
cs0 … 1FDOCBODY
@moodCode
cs0 … 1FEVN
 ConstraintSections and subsections SHALL have a title and the title SHALL NOT be empty. Text of a section title can specialize the section code by being more specific, for example, a hearing loss genetic testing report.
 ConstraintSections SHALL appear in the order they are presented in this guide. Thus, SummarySection SHALL appear first and TestInformationSection SHALL appear last (unless present within each TestDetailsSection). In between, TestDetailsSection can be repeated per the no. of genetic tests performed.
hl7:confidentialityCode
CE0 … 1Genedotsport
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.16926 x_BasicConfidentialityKind (DYNAMIC)
hl7:languageCode
CS0 … 1Genedotsport
 CONF
The value of @code shall be drawn from value set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC)
hl7:section
1 … 1RSummary Section
Contains 2.16.840.1.113883.10.20.20.1.1 Summary Section (DYNAMIC)		Genedotsport
hl7:section
1 … *RTest Details Section
Contains 2.16.840.1.113883.10.20.20.1.8 Test Details Section (DYNAMIC)		Genedotsport
hl7:section
1 … 1RTest Information Section
Contains 2.16.840.1.113883.10.20.20.1.9 Test Information Section (DYNAMIC)		Genedotsport