Mainstreaming genetic testing of cancer predisposition genes.

Referrals are invited from consultants in secondary and/or tertiary care for patients in whom the diagnosis of EDS is suspected but not confirmed for one of the following reasons: > Diagnostic criteria according to Villefranche classification are not met > Diagnostic testing does not confirm the diagnosis suspected > Diagnostic criteria of more than one type of EDS are identified > There are significant additional findings aside from the diagnostic criteria 8 Zweers MC, Bristow J, Steijlen PM et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers–Danlos Syndrome. Am J Hum Genet 2003;73:214–7. 9 Sobey G. Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child 2014;doi:10.1136/ archdischild-2013-304822.