Familial SHOX gene related disorders
Applicable to all labs undertaking molecular testing for familial SHOX related 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.
Prader-Willi and Angelman Syndromes (PW / AS)
Applicable to all labs undertaking molecular testing in these syndromes
Retinoblastoma (RB)
Applicable to all labs undertaking molecular genetic testing in this familial cancer.
Pharmacogenetics (DPYD / UGT1A1 only)
Applicable to all labs undertaking molecular testing of DPYD and/or UGT1A1 pharmacogenetic markers for drug response and efficacy.
