The OverallInterpretationSection template describes the overall interpretation of the genetic tests performed. It is further specialized by its sub-templates that represent overall interpretation by various testing types performed for the same reason. The main template used in this section for the structured data is the ClinicalGenomicStatementOverallInterpretation template (depicted in chart 6 of the slide deck enclosed in the GTR package).
Context
Parent nodes of template element with id 2.16.840.1.113883.10.20.20.1.1.1
Classification
CDA Section Level Template
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Open (other than defined elements are allowed)
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Used by 1 transaction and 2 templates, Uses 1 template
<section> <templateIdroot="2.16.840.1.113883.10.20.20.1.1.1"/><title>Overall Interpretation</title><text> <list> <item> <contentstyleCode="Bold">Inconclusive.</content></item><item> <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). </content></item><item> <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. </content></item><item> <content> Mitochondrial Hearing Loss mutations: Targeted bidirectional sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the presence of these mutations. </content></item></list></text><entry> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.2.4"/><idroot="2.16.840.1.113883.18.12.7.30.9.1.2"/><codecode="55232-3"codeSystemName="LOINC"displayName="Genetic analysis summary panel"/><statusCodecode="completed"/><entryRelationshiptypeCode="SUBJ"> <organizerclassCode="BATTERY"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.5.1"/><statusCodecode="completed"/><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.1"/><code/></observation></component><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.2"/><code/></observation></component><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.3"/><code/></observation></component><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.4"/><code/></observation></component></organizer></entryRelationship><entryRelationshiptypeCode="RSON"> <observationclassCode="COND"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.2.1"/><code/></observation></entryRelationship><entryRelationshiptypeCode="SPRT"> <observationclassCode="OBS"moodCode="DEF"> <templateIdroot="2.16.840.1.113883.10.20.20.2.5.5"/><codecode="51968-6"codeSystemName="LOINC"displayName="Genetic disease analysis overall interpretation"/><statusCodecode="completed"/><effectiveTimevalue="200512011500"/><valuexsi:type="CD"code="LA9663-1"displayName="Inconclusive"/><performertypeCode="PRF"> <assignedEntity> <idroot="2.16.840.1.113883.19.3.2409.345"/><representedOrganization> <name>The New Genetic Testing Analysis Service</name></representedOrganization></assignedEntity></performer></observation></entryRelationship></observation></entry></section>