Purchase of Rare or Inherited Disease Test Directory testing for Welsh patients

Description

In-line with All Wales Medical genomic Service’s (AWMGS) commissioning model, AWMGS will procure from CeGaT whole exom sequencing (WES) for trio or singleton virtual panel analysis, MLPA and single gene testing for patients where this testing cannot be accessed within the NHS E laboratory network. This genetic testing will ensure equity of access to genomic testing for Welsh patients and meet their need to seek a timely genetic diagnosis for their rare or inherited disease. Lot 1: NWSSP Procurement Services intends to award a contract on behalf of Cardiff and Vale University Health Board, AWMGS, for the supply of whole exom sequencing (WES) for trio or singleton virtual panel analysis, MLPA and single gene testing from CeGAT. The contract is estimated to commence in June 2024, for a period of two years.