Template

Show index

Template Test Details Section 2013‑02‑01

Id2.16.840.1.113883.10.20.20.1.8Effective Date2013‑02‑01
Statusdraft DraftVersion Label
NameTestDetailsSectionDisplay NameTest Details Section
Description
The TestDetailsSection template is the blueprint for all sections describing specific types of genetic testing, such as the genetic variation section, cytogenetic section, etc. It consists of subsections common in genetic testing, e.g., indications, findings, interpretations, specimen, tests performed, and test information. In later releases of the GTR, it could be that specialized sections will be created by extending the TestDetailsSection to represent unique requirements of different types of genetic testing that are not accomodates by TestDetailsSection.
The overall structure of TestDetailsSection is depicted in chart 3 of the slide deck enclosed in the GTR package.
ContextParent nodes of template element with id 2.16.840.1.113883.10.20.20.1.8
ClassificationCDA Section Level Template
Open/ClosedOpen (other than defined elements are allowed)
Used by / Uses
Used by 1 transaction and 1 template, Uses 7 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
2.16.840.1.113883.10.20.20Containmentdraft Genetic Testing Report2013‑02‑01
Uses as NameVersion
2.16.840.1.113883.10.20.20.1.7Containmentdraft Specimen SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9Containmentdraft Test Information SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.10Containmentdraft Test Performed SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.11Containmentdraft Indications SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.12Containmentdraft Findings SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.13Containmentdraft Interpretation SectionDYNAMIC
2.16.840.1.113883.10.20.20.2Containmentdraft Clinical Genomic StatementDYNAMIC
RelationshipSpecialization: template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
ref
ad1bbr-
Example
Example
<section>
  <templateId root="2.16.840.1.113883.10.20.20.1.8"/>  <title>Genetic Variations</title>  <entry>
    <observation classCode="OBS" moodCode="EVN">
      <templateId root="2.16.840.1.113883.10.20.20.2.1"/>      <id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>      <code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>      <statusCode code="completed"/>      <effectiveTime value="200512011500"/>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>          <code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>          <value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>          <code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>          <value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>          <code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>          <value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>          <code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>          <value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>          <code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>          <value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>          <code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>          <value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>          <code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>          <value xsi:type="CD" code="Val37Ile"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>          <code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>          <value xsi:type="CD" code="LA6698-0" displayName="Missense"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>          <code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>          <value xsi:type="ST">Exon 2</value>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>          <code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>          <value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="RSON">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SPRT">
        <observation classCode="OBS" moodCode="DEF">
          <templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>          <code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>          <value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>        </observation>      </entryRelationship>    </observation>  </entry>  <entry>
    <observation classCode="OBS" moodCode="EVN">
      <templateId root="2.16.840.1.113883.10.20.20.2.1"/>      <id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>      <code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>      <statusCode code="completed"/>      <effectiveTime value="200512011500"/>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>          <value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>          <value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>          <value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>          <value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>          <value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>          <value xsi:type="CD" code="Val27Ile"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>          <value xsi:type="CD" code="LA6698-0" displayName="Missense"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>          <value xsi:type="ST">Exon 2</value>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>          <value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="RSON">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SPRT">
        <observation classCode="OBS" moodCode="DEF">
          <templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>          <code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>          <value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>        </observation>      </entryRelationship>    </observation>  </entry>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.10"/>      <title>Tests Performed</title>      <text>
        <list>
          <item>
            <content>
GJB2 Full Gene Test
</content>          </item>        </list>      </text>      <entry>
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.3.4"/>          <code displayName="Test Performed"/>          <statusCode code="completed"/>          <effectiveTime value="200512011500"/>          <value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">
            <originalText>
              <reference value="#a1"/>            </originalText>          </value>          <entryRelationship typeCode="RSON">
            <observation classCode="COND" moodCode="EVN">
              <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>              <code/>            </observation>          </entryRelationship>        </observation>      </entry>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.12"/>      <title>Findings</title>      <text>
        <list>
          <item>
            <content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</content>          </item>          <item>
            <content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</content>          </item>        </list>      </text>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.13"/>      <title>Interpretation</title>      <text>
        <list>
          <item>
            <content>Mutations interpretation</content>            <list>
              <item>
                <content>V37I - Pathogenic</content>              </item>              <item>
                <content>V27I - Benign</content>              </item>            </list>          </item>          <item>
            <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).
</content>          </item>        </list>      </text>    </section>  </component></section>
ItemDTCardConfDescriptionLabel
hl7:section
Testdotstion
 ConstraintSub-sections of the TestDetailsSection SHOULD appear in the order presented in this implementation guide.
hl7:templateId
II1 … 1MTestdotstion
@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.8
hl7:code
0 … 1Testdotstion
 Constraint
Gtr Test Details Section MAY contain a code that represents "Detailed report of a specific genetic testing",
e.g., Genetic Variations, Cytogenetics, Gene Expression, etc.
hl7:title
0 … 1RTestdotstion
 Constraint
Title SHALL contain text that implies "Detailed report of a specific genetic testing", e.g., Genetic Variations,
Cytogenetics, Gene Expression, etc.
hl7:entry
0 … *RClinical Genomic Statement
Contains 2.16.840.1.113883.10.20.20.2 Clinical Genomic Statement (DYNAMIC)		Testdotstion
hl7:section
0 … 1RIndications Section
Contains 2.16.840.1.113883.10.20.20.1.11 Indications Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1RTest Performed Section
Contains 2.16.840.1.113883.10.20.20.1.10 Test Performed Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1RFindings Section
Contains 2.16.840.1.113883.10.20.20.1.12 Findings Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1RInterpretation Section
Contains 2.16.840.1.113883.10.20.20.1.13 Interpretation Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1Test Information Section
Contains 2.16.840.1.113883.10.20.20.1.9 Test Information Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1Specimen Section
Contains 2.16.840.1.113883.10.20.20.1.7 Specimen Section (DYNAMIC)		Testdotstion