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.
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.
Hereditary Breast and Ovarian Cancer (HBOC) (Germline)
BRCA1/BRCA2 or panel testing for hereditary breast and ovarian cancer (HBOC) (Germline DNA), this EQA has options for targeted or panel testing
Hereditary Cystic Kidney Disease (ADPKD)
PKD1 / PKD2 and panel testing for patients with Hereditary Cystic Kidney Disease. This EQA has options for targeted testing and panel testing (germline DNA testing).