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.
Polyposis Syndromes (FAP, MAP)
Applicable to any lab undertaking molecular genetic testing for disorders associated with polyposis – Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Porphyrias
Applicable to all labs undertaking molecular genetic testing in this group of disorders.
Postnatal Constitutional CNV Detection
Applicable to all labs undertaking Postnatal Constitutional CNV Detection using array based, or NGS approaches.
