With reporting solution provided by Emedgene, creating comprehensive Clinical Reports is a piece of cake.✨ All the relevant case- and variant-level information is automatically populated to the corresponding sections of the report.
Note: Emedgene offers the capability of customizing Clinical Reports upon request. We tailor Report templates for any use case according to your SOPs and aesthetic sense.
Includes (numbers indicate ):
Patient details: Patient's name [1], date of birth [2], sex [2] and MRN [1];
Technical sample details: Specimen's type [1] and quality [3], dates collected [1] and received [1];
Provider details: Lab number [1], ordering physician's name [1];
Results summary gives a general overview of the test result:
Test result summary [4];
Secondary ACMG findings summary [4];
Interpretation summary [4];
Recommendations [4].
Detailed results highlight the genetic testing findings:
Basic sequence variant details:
Gene [3],
Genomic location [3],
Test details:
Test methodology [5];
Test limitations [5].
The References [9] section lists all the PubMed citations mentioned in the report. References will be auto-formatted if the PMID is supplied in the report.
The Signatures section documents who and when generated the report [3].
After you completed the , you may want to have a look at the Report Preview before finalizing a case. To do this, click on the eye button located rightmost on the , select a template and click Preview.
You can download the report preview in a .pdf or .odt format.
After you changed to Finalized, you can Generate Report. All the generated reports are saved per case. Click on the printer button on the , select Create New or choose a previously generated report (if any), then select a template and click Generate.
You can download the report in a .pdf or .odt format.
[1] - API;
[2] - filled in while ; displayed in ; for non-finalized cases;
[3] - automatically inferred by Emedgene,
[4] - filled in in the Case Interpretation widget while ,
[5] - fixed text,
[6] - manually assigned in the Pathogenicity box of the of the Variant Page,
[7] - depends on the evidence generated on the ,
[8] - automatically or manually filled in in the Variant Interpretation notes of the of the Variant Page,
[9] - in any of the free text fields you can add PMIDs in one of the following formats: PMID1234, PMID 1234, PMID:1234.
Case type [2];
Clinical information: Indication for testing [2] or, if it's not available, Proband's phenotypes [2]; Secondary findings requested [2]: Yes/No.
Zygosity/Inheritance [3] (Zygosity in Proband and their relatives),
Classification [6] (Pathogenicity),
Condition [7] (Disease and Inheritance mode if available).
Basic copy number variant details:
Chromosome region [3],
Type: DEL/DUP [3],
Genes [3],
Zygosity/Inheritance [3] (Zygosity in Proband and their relatives),
Minimum length [3],
Classification [6] (Pathogenicity).
Individual sequence variant interpretations:
Basic variant details [3]: gene, genomic location, coding sequence and protein sequence change HGVS notations, exon involved, variant's main effect, Prediction, Conservation and Splice Prediction scores, gnomAD population statistics,
Associated diseases [3] - all the diseases known to be associated with the gene,
Quality [3]: Zygosity, base quality, depth in Proband and their relatives,
Summary [8].
Individual copy number variant interpretations:
Chromosome region [3],
Type: DEL/DUP [3],
Minimum length [3],
Zygosity in Proband [3],
Classification [6] (Pathogenicity),
Summary [8].
Gene interpretation [4]
