Confirmatory genetic testing for Thalassemia, Haemophilia A and B, and Haemochromatosis.

Genetic testing for Thalassemia and Haemophilia must be performed prior to pregnancy.

Testing for these disorders is complex, requires cascade testing and turnaround time may vary from several weeks to several months. Prenatal testing for Thalassemia and Haemophilia can only be performed in circumstances where the parental mutation profile has been previously ascertained.

Testing will only be performed on samples where FBE, HE and iron studies results are provided.

For thalassaemia couples contemplating pregnancy, both partners must have adequate testing before prenatal testing can be performed.

Referrals for prenatal testing must come via an accredited clinical genetics service and advanced notification is essential.

Samples for genetic testing for Haemophilia will only be accepted from accredited clinical genetics services. Accredited clinical genetics services are situated at Monash Medical Centre, Royal Children’s Hospital, Alfred Hospital, Austin Hospital and Royal Melbourne Hospital.

Genes tested: HBA1, HBA2, HBB, HBD, F8, F9, HFE