Wilson Disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
Porphyrias
Applicable to all labs undertaking molecular genetic testing in this group of disorders.
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)
Phenylketonuria (PKU)
Applicable to all labs undertaking molecular genetic testing in this disorder.
Monogenic Diabetes
Applicable for all labs undertaking molecular genetic testing for this group of disorders.
Mitochondrial DNA disorders
Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders
