Familial SHOX gene related disorders
Applicable to all labs undertaking molecular testing for familial SHOX related disorders.
Spinal Muscular Atrophy (SMA)
Applicable to all labs undertaking molecular genetic testing for this disorder.
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).
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.
