NEXT GENERATION SEQUENCING PANEL FOR FAMILIAL HYPERCHOLESTEROLEMIA AND WHOLE EXOME SEQUENCING LIBRARY PREP SOLUTION

The contract is for the provision of a Next Generation Sequencing (NGS) panel, associated reagents, technical support, training and related services to support diagnostic testing for Familial Hypercholesterolaemia (FH) within the All Wales Genomics Laboratory. Nonacus is the sole supplier capable of providing the required proprietary panel and associated services, which have been extensively validated within the existing diagnostic pathway. The solution is fully compatible with current laboratory infrastructure and includes ongoing technical support, quality assurance and contingency arrangements to support continuity of service delivery. The service supports approximately 600 diagnostic tests per annum, including initial and cascade testing, as part of the nationally commissioned All Wales Familial Hypercholesterolaemia service.