Hereditary Haemochromatosis (HFE)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Hereditary Hearing Loss
Applicable to all labs undertaking molecular genetic testing for this disorder.
Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
Applicable to all labs undertaking molecular genetic testing for this hereditary cancer type.
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.
Familial autosomal dominant hypercholesterolemia (FH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
