Prader-Willi and Angelman Syndromes (PW / AS)
Methylation and copy number analysis for Prader-Willi and Angelman Syndromes (PW / AS) (Germline DNA)
Retinoblastoma (RB)
RB1 testing for patients with retinoblastoma and familial cases.
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)
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)
Familial SHOX gene related disorders
SHOX testing for familial SHOX related disorders (Germline DNA).