UKGTN Guide to Centres with Specialist Expertise for Rare Genetic Disorders

Written by Jacqui Hoyle on 13 January 2014

The ‘UKGTN Guide to centres with specialist expertise for rare genetic disorders’ provides details of specialist genetic services – clinical and laboratory – that are provided in the United Kingdom by Regional Genetic Services and UKGTN member laboratories.  It was first published in August 2013 and revised December 2013. 

Key findings:

  • There are more than 3700 joint clinics being held
  • Less than 10% of disorders have more than three labs providing testing for specific disorders
  • 27 laboratories are the unique providers for 69% of the disorders on the Directory
  • The specific laboratories with specialist expertise in different medical areas

This Guide is an invaluable tool for clinicians who need guidance about where to find experts and expert centres.

It aims to assist patient care through providing clarity about the expert clinical centres providing services for rare genetic disorders.