Systemic Autoinflammatory Diseases
Applicable for all labs undertaking molecular genetic testing for this group of disorders.
DNA SEQUENCING – SANGER
Applicable to any labs using Sanger sequencing as part of their testing process.
Spinocerebellar Ataxias (SCA)
Applicable to all labs undertaking molecular genetic testing for this group of ataxias.
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.
