Spinocerebellar Ataxias (SCA)
Applicable to all labs undertaking molecular genetic testing for this group of ataxias.
Polyposis Syndromes (FAP, MAP)
Applicable to any lab undertaking molecular genetic testing for disorders associated with polyposis – Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Porphyrias
Applicable to all labs undertaking molecular genetic testing in this group of disorders.
Rare Neuromuscular Disease gene panel
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
Osteogenesis imperfecta (OI)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Ovarian, breast, prostate and pancreatic cancers (PARPi) [DNA, Germline]
Applicable to any lab undertaking germline molecular testing of BRCA1 and BRCA2 genes in the context of PARPi prescription, using genomic DNA.
