Analytic validation of diagnostic tests at Blueprint Genetics

Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests.

Blueprint Genetics performs analytic validation of all laboratory and data analysis assays per ACMG guidelines. Independent and publicly available sample materials and data sets are applied as reference materials in all validation studies to ensure full traceability of the validation results. Comparisons are performed using all available data and no post-analysis corrections are applied.

Blueprint Genetics diagnostic panels have been designed together with clinicians to maximize the tests’ impact for clinical practice. Each panel has been carefully compiled to be used in specific clinical applications where differential diagnosis requirements and complex disease phenotypes need to be taken into consideration. Sequencing analysis covers all coding exons based on the widest possible gene models, including 20 bases of flanking intronic sequences. Our panels offer high sensitivity to detect different types of genetic variants, e.g. SNVs, INDELs, and CNVs.