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.
Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]
Applicable to labs undertaking molecular testing of the PIK3CA, AKT1 and PTEN genes in this type of cancer.
Congenital Adrenal Hyperplasia (CAH)
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)
Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)