RYR1 related Myopathies and Malignant Hyperthermia susceptibility
Applicable to 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.
Pharmacogenetics (DPYD / UGT1A1 only)
Applicable to all labs undertaking molecular testing of DPYD and/or UGT1A1 pharmacogenetic markers for drug response and efficacy.
Pharmacogenetics (panel testing)
Applicable to all labs undertaking panel based molecular testing of pharmacogenetic markers for drug response and efficacy.
Phenylketonuria (PKU)
Applicable to all labs undertaking molecular genetic testing in this disorder.
Multiple Endocrine Neoplasia Type 2 (MEN2)
Applicable for all labs undertaking molecular genetics testing for this disorder.
