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Cardiac genetics

ADULT PAEDIATRIC

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis AND the patient or their partner is pregnant and an opinion/genetic testing will guide investigations, management, and outcome in pregnancy
  • Category 2
    (appointment within 90 calendar days)
    • The patient has a personal history of a cardiac genetic diagnosis AND is currently on or about to go onto a palliative care pathway
    • The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation HAS been identified on a genetic test
  • Category 3
    (appointment within 365 calendar days)
    • The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation has NOT been identified on a genetic test

1. Reason for request Indicate on the referral

  • To establish a diagnosis
  • For treatment or intervention not otherwise accessible to the patient
  • For advice regarding management
  • To engage in an ongoing shared care approach between primary and secondary care
  • Reassurance for GP/second opinion
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)

2. Essential referral information Referral will be returned without this

  • As much detail as possible about the patient's personal history of disease including the following:
    • clear indication of clinical need for urgency (see above)
    • clinical diagnosis and features
    • age at diagnosis
    • treatment (completed and planned)
    • relevant pathology (if results are available on Auslab please indicate this on referral)
    • relevant organ specific diagnostic investigations and/or imaging results (especially ECG, MRI and echocardiogram) (if results are available within ieMR please indicate this on referral)
    • details and results of genetic testing if performed
  • Presence or absence of relevant family (blood relatives) history
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC

3. Additional referral information Useful for processing the referral

  • Known details of relevant family history (first and second-degree blood relatives) including:
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
    • autopsy reports (where relevant and available)
  • If the family is known to GHQ, the GHQ reference number (GF)
  • If the family are known to another genetic service, the name of the service and family reference number (if available)

4. Request

Last updated: 13 June 2023