Hereditary Hearing Loss
Applicable to all labs undertaking molecular genetic testing for this disorder.
Homologous Recombination Deficiency (HRD) testing in ovarian cancer [Tissue]
Applicable to all labs undertaking molecular genetic testing for HRD in solid tumours.
Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
Applicable to all labs undertaking molecular genetic testing for this hereditary cancer type.
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.
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.
