High-throughput Sequencing in the Diagnosis of Inherited Bleeding and Clotting Disorders: Technical and Interpretive Considerations Necessary for Accurate Reporting and Clinical Application.

Genetic testing is a valuable tool for diagnosing bleeding and clotting disorders. Guidelines exist to aid laboratories in performing genetic testing and interpreting results, but these are often broad and lack gene-specific or disease-specific recommendations. This article examines the current state of genetic testing for these conditions, highlighting key challenges including variant calling and bioinformatic pipelines, panel design with respect to patient phenotypes, and variant interpretation with evolving classification frameworks. By addressing these complexities, we aim to provide a clearer understanding of the technical and interpretive considerations necessary for accurate genetic reporting and meaningful clinical application.