Health conditions

Genetic paediatric services

Your child may be referred to us if you or your doctor is concerned about their growth, development or health.

As part of Genetic Services of Western Australia, we will check your child to determine if a genetic condition is the underlying cause of these concerns. We also provide information, support and resources.

If your newborn baby has been identified through the newborn screening test as a carrier of cystic fibrosis, you will be referred to us for counselling and further assessment.

You may also be referred to us if your child or someone in your family has any of the following genetic conditions:

  • congenital anomalies (birth defects)
  • dysmorphic features (atypical shape or appearance of parts of the body)
  • developmental delay
  • unexplained and abnormal growth patterns
  • metabolic disorders
  • other genetic conditions.

Where do you provide services?

Regular clinics are currently held at Perth Children's Hospital (external site).

Metropolitan outreach genetic clinics are held at Joondalup Health Campus and Rockingham District Hospital.

Regional outreach genetic clinics are held in:

  • Albany
  • Bunbury
  • Geraldton
  • Kalgoorlie
  • Port Hedland.

Making an appointment

Your doctor or specialist can refer you or you can contact Genetic Services of Western Australia.

Before your first appointment

To accurately assess your child it is important we gather as much information as possible about your family health history.

Once we receive a referral, a genetic counsellor will contact you to ask about you and your family’s health history. We may also:

  • send you consent forms so we can access the medical records of other family members
  • contact you to get copies of other medical reports, doctor’s letters, death certificates or photographs of family members as these may be very helpful to us.

All information provided before, during, or after your appointment is treated confidentially.

  • Geraldton
  • Kalgoorlie
  • Port Hedland.

Your first appointment

This is an opportunity for you to talk about any concerns you have.

We will review your family health history and a physical examination of your child may be also required. Sometimes we may need to gather more information and arrange further tests.

Please bring to your appointment:

  • your child
  • their child health record (a yellow or purple book)
  • family photos
  • recent medical reports and investigations.

Appointments may take up to 1 hour and you may need more than 1 appointment. You are also welcome to bring a family member or another support person to your appointment.

Review appointments

Sometimes the geneticist will ask you to attend a review appointment to answer further questions or discuss results of investigations.

You are also welcome to contact one of our genetic counsellors if you wish to arrange a review appointment.


There is no charge for these services if you have a Medicare card.

More information

Genetic Services of Western Australia

This publication is provided for education and information purposes only. It is not a substitute for professional medical care. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your healthcare professional. Readers should note that over time currency and completeness of the information may change. All users should seek advice from a qualified healthcare professional for a diagnosis and answers to their medical questions.