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.
Pan-Tumour Fusions [FFPE]
Applicable to all labs undertaking molecular genetic testing for this fusion genes in solid tumours.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) and optional gene panel testing for hereditary cystic kidney disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
Cardiac Genetics Gene Panel: Arrhythmias
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
