Skip to main content
. 2022 Apr 1;30(9):1011–1016. doi: 10.1038/s41431-022-01091-0

Table 1.

Summary of updates to the previous iteration of the European Society of Human Genetics (ESHG) recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) [2].

Section Summary
Clinical information accompanying the samples The minimal set of clinical information accompanying the samples has been removed. Each laboratory has their local requirements for sample acceptance so the authors agreed that this document should focus on the information required for the report rather than sample receipt. The relevant details required to be present on the report are summarised.

Contents of the report

 • Administrative

 • Identification

 • Clinical question

 • Test specifications

The contents of the report section has been updated to align with ISO15189 for ease of use.

The increased use of electronic reporting has been addressed.

Information on the importance of understanding and reporting the limitations of the test performed in the context of current methodologies has been provided.

The use of standardised nomenclature, legacy nomenclature is discussed.

Guidance on reporting tandem repeat expansions is given.

Contents of the report

 • Interpretation of the results

The reporting of variant pathogenicity classification is discussed.

Guidance on the reporting of no clinically significant findings, incidental findings and recommendations for further testing has been included.

Reporting results from testing of multiple individuals This section has been updated in line with current GDPR.
Amended reports New section added.
Sample storage reports New section added.