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).
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.
Wilson Disease
ATP7B testing for Wilson Disease (Germline DNA)
Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
MSH2, MLH1, MSH6, EPCAM and PMS2 testing for patients with Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC) and familial cases.