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.
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.
Monogenic Diabetes
GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)
Wilson Disease
ATP7B testing for Wilson Disease (Germline DNA)