NGS Panel and Whole Exome Sequencing Library Prep for Familial Hypercholesterolemia Testing

The All Wales Genomics Laboratory seeks a Next Generation Sequencing (NGS) panel solution with associated reagents, technical support, and training services for diagnostic testing of Familial Hypercholesterolemia (FH). The required solution must include a proprietary NGS panel specifically validated for FH diagnosis, whole exome sequencing library preparation capabilities, comprehensive technical support, quality assurance protocols, and contingency arrangements to ensure service continuity. The supplier must demonstrate compatibility with existing laboratory infrastructure and the ability to support approximately 600 diagnostic tests annually, including both initial patient testing and cascade testing for family members. This service supports the nationally commissioned All Wales Familial Hypercholesterolemia service. Nonacus has been identified as the sole supplier capable of meeting these specialized requirements based on extensive validation within the existing diagnostic pathway.