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.
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.
Hereditary Amyloidosis
Applicable to labs that undertake molecular genetic testing for this group of disorders
Y-Chromosome Microdeletion testing (AZF)
Applicable to all labs undertaking Y-Chromosome Microdeletion testing for male infertility.
Breast cancer (ESR1 cfDNA testing) [Plasma]
Applicable to labs undertaking molecular testing of the ESR1 gene in cfDNA
