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 Consultmed to manage referrals. The Consultmed platform allows health professionals to send e-referrals to us securely.   

Consultmed questions and technical support: helpdesk@consultmed.co

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.  

Track your referral

Our department uses Consultmed to manage referrals. Your referring clinician sends the e-referral to us using the secure Consultmed platform.  

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.  

If your clinician has questions about Consultmed or require technical support, they can contact helpdesk@consultmed.co.  

Need support?

If you need help or have questions about the referral and appointment process, please contact us.  

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

Patient and family support

A smiling Aboriginal family.
Our Aboriginal Hospital Liaison and Education officers play an important role in the care and welfare of and advocacy for Aboriginal patients and families, helping ensure a responsive and respectful patient journey.
A young girl sits on her mother's lap on a hostpital bed.
We can arrange a free interpreter for you. Interpreters are available for over 50 languages. Tell us which language you speak when your child is admitted, or let your nurse know.
A mother holds her baby as she uses her smartphone.
The Cartula Health app helps manage and inform you about your healthcare journey at the Sydney Children’s Hospitals Network. You can organise your appointments and hospital documents all in one place!