Systemic Autoinflammatory Diseases
Testing for related genes (ADA2, NOD2, MVK or MEFV) for Systemic Autoinflammatory Diseases (Germline DNA)
Spinocerebellar Ataxias (SCA)
Testing for Spinocerebellar Ataxias (SCA) (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).
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
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.