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Work
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Maturity Level : N/A |
|
Trial-Use Note:
The
DiagnosticReport-genetics profile extends the DiagnosticReport resource to enable reporting of structured genetic test results by referring to Observation-genetics profile. In addition, the genetics profile denotes condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels and provides references to the FamilyMemberHistory resource, the Condition resource. For use cases, detailsmaterial onhowthisresource interact with other Clinical Genomics resources or profiles, please referpage is currently undergoing work toimplementation guidance document here . 10.2.15.2 Scope and Usage The DiagnosticReport-genetics profile supports reporting of DNA variants at the genomic, cDNA, and protein change level. In addition, a condition context maybeprovided, as AssessedCondition. For large genomic tests,refactored or potentially removed in acondition may be usedfuture release asan input into the analytic pipeline to aid in the identificationfurther analysis is done as part ofclinically relevant variants related tothetest order. Hl7 ClinicalGenomicsWork Group emphasizes the importance of transmitting structured genetic findings within the clinical, translational, and research environments fully integrated with other clinical data, in order to drive outcomes analysis, operational decision making, discovery research, and public health reporting. HereReporting Implementation Guide![]()
is the document of HL7 Version 3 Domain Analysis Model where the examples used in genetics profile are from (Page 5)..
| Profiles : | |
| HLAResult | Describes how the HLA genotyping results |
| Extensions : | |
| hla-genotyping-results-allele-database |
allele-database
:
Allele Database. |
| hla-genotyping-results-glstring |
glstring
:
glstring. |
| hla-genotyping-results-haploid |
haploid
:
haploid. |
| hla-genotyping-results-method |
method
:
The platform, methodology and software applied at the time of the genotyping. |
| Examples : | |
| HLA genotyping |
An example of a HLA genotyping results report |