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.
Monogenic Diabetes
GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)
Fragile X Syndrome (FRAX)
FMR1 gene testing for Fragile X Syndrome (FRAX) (Germline DNA).
Friedreich Ataxia (FRDA)
FXN gene testing for Friedreich’s Ataxia (FRDA) (Germline DNA)
Huntington disease (HD)
HTT gene testing for Huntington disease (HD) (Germline DNA)