Familial SHOX gene related disorders
Applicable to all labs undertaking molecular testing for familial SHOX related disorders.
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.
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.
Retinoblastoma (RB)
Applicable to all labs undertaking molecular genetic testing in this familial cancer.
