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)
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).
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.