Wilson Disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
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)
RYR1 related Myopathies and Malignant Hyperthermia susceptibility
Applicable to all labs undertaking molecular genetic testing for this group of disorders.
Systemic Autoinflammatory Diseases
Applicable for all labs undertaking molecular genetic testing for this group of disorders.
Spinocerebellar Ataxias (SCA)
Applicable to all labs undertaking molecular genetic testing for this group of ataxias.
