Genetic testing for rare disorders: what referring labs want

Abstract

Human genetics is one of the few medical disciplines that has seen a dramatic rise in the number of recognisable clinical entities in recent decades, in part a consequence of the fruits of the Human Genome Project, and in part due to remarkable technological advances. Molecular genetics, akin to a recently conceived embryonic elephant within the pathology sciences, has been a notable beneficiary of these advances. However, a likely future shift to functional diagnostic assays for many monogenic diseases brings with it a need for genetic diagnostic laboratories to have the depth of professional expertise and flexibility required to establish in vivo cellular assays as well as conventional bio..