Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Monogenic Diabetes
GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.
Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.
Wilson Disease
ATP7B testing for Wilson Disease (Germline DNA)
Neuromuscular Disorders
Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.