Wilson Disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
Familial SHOX gene related disorders
Applicable to all labs undertaking molecular testing for familial SHOX related disorders.
Stickler syndrome
Applicable to all labs undertaking molecular genetic testing for this syndrome.
Von Hippel Lindau Syndrome (VHL)
Applicable to all labs undertaking molecular testing for this syndrome
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.
