Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
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.
Monogenic Diabetes
GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)
Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.