Prader-Willi and Angelman Syndromes (PW / AS)
Applicable to all labs undertaking molecular testing in these syndromes
Retinoblastoma (RB)
Applicable to all labs undertaking molecular genetic testing in this familial cancer.
Rare Neurological 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)
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.
Phenylketonuria (PKU)
Applicable to all labs undertaking molecular genetic testing in this disorder.
