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.
Familial autosomal dominant hypercholesterolemia (FH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
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.
