Paediatric genetics
Emergency referrals
If any of the following are present or suspected, refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.
- No referrals to emergency relating to clinical genetics
Does your patient wish to be referred?
Minimum referral criteria
Does your patient meet the minimum referral criteria?
Category 1
Appointment within 30 days is desirable
- The child is affected by a genetic condition AND a parent is pregnant and an opinion/genetic testing will guide investigations, management, and outcome in pregnancy
Category 2
Appointment within 90 days is desirable
- The patient has a personal history of a genetic diagnosis AND is currently on or about to go onto a palliative care pathway
- The patient is currently affected by a neurodegenerative genetic condition
Category 3
Appointment within 365 days is desirable
- The patient has a personal and/or any family history (blood relatives) of a paediatric genetic diagnosis, with/without a specific gene mutation/chromosomal anomaly identified on a genetic test
If your patient does not meet the minimum referral criteria
Consider other treatment pathways or an alternative diagnosis.
If you still need to refer your patient:
- Please explain why (e.g. warning signs or symptoms, clinical modifiers, uncertain about diagnosis, etc.)
- Please note that your referral may not be accepted or may be redirected to another service
Other important information for referring practitioners
Not an exhaustive list
- The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded genetic test.
- If there are any queries regarding the appropriateness of a referral please contact GHQ.
- If the patient is an UNTESTED blood relative of a person with an identified gene mutation/chromosomal anomaly, please refer to the following CPC:
- Patients will be asked to provide detailed family information either during a telephone consultation or via a family history questionnaire. One or more ‘Consent to Release information’ forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
- A referral for both parents (if available) is very useful, especially for a child with the following conditions:
- Chromosomal anomaly
- Cystic fibrosis (affected or carrier)
- Spinal muscular atrophy
- Other autosomal recessive conditions
- A referral for the intervening parent (if available) is very useful, particularly for a child who has a family history (blood relatives) of a genetic condition.
- Examples of conditions where individuals might be referred include a confirmed or suspected diagnosis/family history of:
- chromosomal disorders
- multiple congenital anomalies (please ensure a chromosome microarray has been performed)
- dysmorphic features (please ensure a chromosome microarray has been performed)
- developmental delay/intellectual disability (please ensure a chromosome microarray has been performed)
- autism (if accompanied by other features) (please ensure a chromosome microarray has been performed)
- known or suspected genetic syndrome
- congenital/early onset sensorineural hearing loss (please see Healthy Hearing Program: Protocols and Guidelines)
- multisystem issues
- fragile X syndrome
Referral requirements
A referral may be rejected without the following information.
Send referral
Hotline: 1300 364 938
Fax: 1300 364 952
Electronic: eReferral system
Mail: Metro North Central Patient Intake
Aspley Community Centre
776 Zillmere Road
ASPLEY QLD 4034
Health pathways
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healthpathways
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brisbanenorth.