Phone: (02) 7825 1325


Neurofibromatosis Learning clinic enquiries: (02) 7825 3057

Urgent referrals: please call the Hospital Switchboard on (02) 7825 0000

About our service

Neurogenetics provides comprehensive clinical care for children affected by muscle and nerve conditions including:

  • muscular dystrophy
  • spinal muscular atrophy
  • the peripheral neuropathies
  • complex neurofibromatosis type 1 and 2 (NF1 and NF2). 

The Neuromuscular clinic cares for children and adolescents with a range of muscle and nerve disorders including:

  • neuropathies
  • congenital myopathies
  • myotonic dystrophy
  • Duchenne muscular dystrophy
  • spinal muscular atrophy
  • Becker muscular dystrophy
  • limb-girdle muscular dystrophy
  • Ulrich congenital myopathy).

The Neurofibromatosis clinic cares for patients with complex neurofibromatosis (NF). 

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:

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  

Need support?

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

Phone: (02) 7825 1325


Neurofibromatosis Learning clinic: (02) 7825 3057

Clinic information

Neurogenetics and neuromuscular clinic

The clinic specialises in the diagnosis, assessment and genetic counselling of children with neurogenetic disorders including tuberous sclerosis, neuromuscular disorders and hereditary ataxias.

Clinic times: Every Wednesday at 2pm

Location: Children's Assessment Centre, Level 3

  • Initial referrals must be from a registered medical practitioner (specialist or consultant)
  • Requests to see a specific geneticist or neurologist can be considered, but are not always possible. All appointment requests are triaged by clinical staff and appointments may be allocated to another Clinic (Genetics or Neurology) if more appropriate.
  • A Genetic Counsellor will usually contact new referrals prior to the clinic visit to obtain a preliminary family tree and check if relevant previous medical information is available.

Neurofibromatosis clinic

The clinic accept new referrals for children under the age of 16 years who:

Reside in NSW and have complex NF1 requiring specialist input or services at CHW that are not available locally. Complex is defined as:

  • A growing/painful plexiform neurofibroma
  • Optic pathway glioma
  • CNS/spinal cord tumour
  • Epilepsy
  • Pseudoarthrosis
  • Receiving investigational drugs
  • Heavy disease load

We provide a diagnostic service to the children who reside in our local catchment area (Western Sydney Local Health District).

We do not provide routine follow up for children with currently uncomplicated NF1.

If a patient does not meet the referral criteria:

  • Annual review with local paediatrician/GP is recommended
  • For advice regarding patients with NF1 that do not meet the referral criteria for CHW complex care, please email
  • GP HealthPathways are available for a patient’s local GP to guide ongoing management of NF1
  • Transition of care guidelines are available to guide the process of transitioning from paediatric to adult care
  • CHW NF1 Learning Clinic provides diagnostic and neuropsychological assessment services for specified children and adolescents with Neurofibromatosis Type 1 (NF1)

Neurofibromatosis 1 assessment clinic

The NF1 Learning clinic is comprised of a team of psychologists and a clinical neuropsychologist who provides diagnostic and neuropsychological assessment services for children and adolescents with Neurofibromatosis Type 1 (NF1) including:

  • Toddlers and preschool-age children aged 3-5 years of age with suspected developmental delay, intellectual disability or behavioural and cognitive concerns
  • School-aged children with suspected learning difficulties, behavioural or cognitive concerns

What will the assessment involve?

  • An assessment session takes approximately 2-4 hours depending on the age of your child
  • Assessments are conducted at The Children’s Assessment Centre, Level 3 The Children’s Hospital at Westmead
  • We'll provide a report of the assessment results and you'll be able to discuss the suggested interventions with us

We accept referrals from:

  • The Children’s Hospital at Westmead Neurogenetics clinic (internal referral)
  • Managing paediatrician, geneticist, neurologist or other relevant medical specialists (external referral)
  • Self-referrals if you have been seen by our NF1 Learning clinic or Neurogenetics clinic previously

Unfortunately, we currently have a lengthy waiting list. Appointments are made once the appropriateness and priority are assessed.

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!