Fanconi anaemia, The Children's Hospital at Westmead
Contact
Phone: (02) 7825 0000
About our service
Our service offers ongoing management and testing of new and previously diagnosed fanconi anaemia patients. Screening is also provided for siblings as it is a genetic condition which means it can be inherited from parents.
The clinic provides gene testing, genetic counselling, orthopaedic management and programs related to bone marrow transplants, cancer screening and research.
Referral process for clinicians
Our department is using to manage referrals.鈥疶he Consultmed platform allows health professionals to send e-referrals to us securely. 鈥�
Consultmed questions and technical support: [email protected]
Referral and appointment process for parents and carers
Request a referral
To make an appointment at our clinic, you will need a referral from your GP, paediatrician or specialist.
They will assess your child, discuss your concerns, and make a referral to the appropriate service.鈥�
Track your referral
Our department uses Consultmed to manage referrals. Your referring clinician sends the e-referral to us using the secure Consultmed platform.鈥�
Once we receive the referral, we will send you an email with your tracking information. We will update you as we process the referral and book your appointment.
To receive these updates, please ask your referring clinician to include your email on the referral.鈥�
If your clinician has questions about Consultmed or require technical support, they can contact [email protected].
Need support?
If you need help or have questions about the referral and appointment process, please contact us.鈥�
Phone: (02) 7825 0000
Clinic information
Our clinic provides:
- Diagnostic testing and screenings of siblings
- Genetic counselling, including the coordination of complementation studies or gene testing via overseas facilities to identify causative mutations in affected individuals, and discussion of family planning options for future pregnancies (including prenatal diagnosis or IVF-pre-implantation genetic diagnosis for those with identified mutations)
- Orthopaedic management, including specialist hand, upper limb and congenital hand clinic
- Haematological management
- Blood and marrow transplantation
- Comprehensive program of related, unrelated and haploidentical marrow and cord blood transplant
- Co-ordinated long term follow up and ongoing surveillance, with particular reference to bone marrow transplant follow-up
- Oral, head and neck cancer screening and endocrine follow-up
- Translational research on non-radiotherapy based bone marrow transplant conditioning, including a well-established drug pharmacokinetic laboratory for real-time tailoring of drug doses in individual patients
