Skeletal Dysplasias

Gene panel testing for patients affected with a form of skeletal dysplasia. This is a pilot EQA, places are limited, complete the form to express interest in participation (see participant information section).

Inherited Retinal Disorders (IRD)

Panel testing for isolated and syndromic Inherited Retinal Disorders (IRD) (Germline DNA). Includes one case involving a gene related to an approved/in trial therapy, and option for RPGR ORF15 testing.

Hereditary Amyloidosis

TTR gene testing for Hereditary Amyloidosis (germline DNA testing) and optional testing for other Hereditary Amyloidosis genes