Porphyrias
Molecular genetic testing for patients with porphyria and familial cases (group of eight disorders of the heme biosynthesis pathway, as defined by Ipnet).
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)
Systemic Autoinflammatory Diseases
Testing for related genes (ADA2, NOD2, MVK or MEFV) for Systemic Autoinflammatory Diseases (Germline DNA)
Severe Combined Immunodeficiencies (SCID) gene panel
Gene panel testing for Severe Combined Immunodeficiencies (SCID) (including targeted panel testing /clinical exome / WES / WGS / Sanger) (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).
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.