Table 2.

Assessment criteria that were developed to ensure the conformance of labs with minimal quality standards of NGS-based test.

Technical standards

Provision of unambiguous information on the library preparation and sequencing approach

Provision of the minimum performance criteria of the test (coverage, percentage of targets captured at minimal sequencing depth)

A clear statement of the limitations of an NGS-based test (in particular for negative reports)

Interpretation standards

A clear statement of the gene content considered in the interpretation

Declaration of variant assertion criteria used in the interpretation

Declaration of the lines of evidence applied in reaching the variant classification

Appropriate use and weighting of evidence used in variant classification

Adequate evidence used in variant classification

Reporting standards

Alignment of the result with the referral medical indication

A clear declaration of the relevance of the finding for the referral diagnosis

Limit the reporting of unrelated or unsupported findings as the principal findings

Provision of condensed and clinically relevant information on the first page of the report