Retinoblastoma (RB)
RB1 testing for patients with retinoblastoma and familial cases.
Rare Neurological Disease (RND) Gene Panel
NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
RYR1 related Myopathies and Malignant Hyperthermia susceptibility
RYR1 testing for RYR1 related Myopathies and Malignant Hyperthermia susceptibility (Germline DNA)
Systemic Autoinflammatory Diseases
Testing for related genes (ADA2, NOD2, MVK or MEFV) for Systemic Autoinflammatory Diseases (Germline DNA)
Familial SHOX gene related disorders
SHOX testing for familial SHOX related disorders (Germline DNA).
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).