Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
Applicable to all labs undertaking molecular genetic testing for this hereditary cancer type.
Hereditary Breast / Ovarian cancer (HBOC) (germline)
Applicable to labs that undertake germline testing for this group of disorders
Huntington disease (HD)
Applicable to all labs undertaking molecular genetics testing for this disorder.
Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).
Applicable to all labs undertaking molecular genetic testing for these disorders.
Myotonic dystrophy (DM) (Types 1 and/or 2)
Applicable to all labs undertaking molecular genetic testing for these disorders.
Duchenne / Becker Muscular Dystrophy (DMD / BMD) and optional gene panel testing for muscular dystrophies / hereditary myopathies
Applicable to all labs undertaking molecular genetic testing for these disorders.