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.
Postnatal Constitutional CNV Detection
Applicable to all labs undertaking Postnatal Constitutional CNV Detection using array based, or NGS approaches.
Prader-Willi and Angelman Syndromes (PW / AS)
Applicable to all labs undertaking molecular testing in these syndromes
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.
