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Untested and AFFECTED blood relative of a person with an identified gene mutation/chromosomal anomaly (confirmatory testing)


If any of the following are present or suspected, please 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
  • If there are any queries regarding the appropriateness of a referral please contact GHQ.
  • In order to offer confirmatory testing, the patient needs to be able to provide sufficient information for GHQ to obtain details of the familial gene mutation/chromosome anomaly and where possible, control DNA for testing. This information may include one or more of the following: copies of genetic test reports, family letters, names and DOB of family members and details of the genetic services where genetic testing has been done. This information should not be included with the referral but will subsequently be requested by GHQ.
  • Confirmatory testing will not be offered for the following:
    • variant of uncertain significance (unclassified or class 3 variant)
    • variant in a gene of limited or unknown clinical utility
    • variant/s that have not been identified/confirmed using an accredited clinical laboratory (e.g. research genetic testing)
  • GHQ may provide families with partially completed referral proformas to facilitate referral. These referrals need to be completed IN FULL by the referring doctor.
  • Confirmatory genetic testing should only be offered following written informed consent (please see HGSA guideline on Pre-symptomatic and predictive testing for children and young adults).

Clinical resources

Patient resources

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • The patient has a personal and/or any family history (blood relatives) of a genetic condition 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 and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation HAS been identified on a genetic test (also see Cardiac Genetics condition)
    • The patient has a personal history of a genetic diagnosis AND is currently on or about to go onto a palliative care pathway


  • Category 3
    (appointment within 365 calendar days)
    • The patient has a personal and/or any family history (blood relatives) of a genetic diagnosis (non-cardiac), where a specific gene mutation/chromosomal anomaly HAS 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 diagnostic investigations and/or imaging results (if results are available within ieMR please indicate this on referral)
    • details and results of genetic testing if performed
  • Name of genetic condition in the family and the name of the gene in which a mutation has been identified or details of the chromosomal anomaly identified in family


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
  • 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)
  • Attach the “family information letter” if available
  • To preserve confidentiality, only include details or attach reports which identify another family member with the referral if consent has been obtained (see below)

4. Request

Patient's Demographic Details

  • Full name (including aliases)
  • Date of birth
  • Residential and postal address
  • Telephone contact number/s – home, mobile and alternative
  • Medicare number (where eligible)
  • Name of the parent or caregiver (if appropriate)
  • Preferred language and interpreter requirements
  • Identifies as Aboriginal and/or Torres Strait Islander

Referring Practitioner Details

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

Relevant clinical information about the condition

  • Presenting symptoms (evolution and duration)
  • Physical findings
  • Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
  • Body mass index (BMI)
  • Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
  • Current medications and dosages
  • Drug allergies
  • Alcohol, tobacco and other drugs use

Reason for request

  • To establish a diagnosis
  • For treatment or intervention
  • For advice and management
  • For specialist to take over management
  • Reassurance for GP/second opinion
  • For a specified test/investigation the GP can't order, or the patient can't afford or access
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)
  • Clinical judgement indicates a referral for specialist review is necessary

Clinical modifiers

  • Impact on employment
  • Impact on education
  • Impact on home
  • Impact on activities of daily living
  • Impact on ability to care for others
  • Impact on personal frailty or safety
  • Identifies as Aboriginal and/or Torres Strait Islander

Other relevant information

  • Willingness to have surgery (where surgery is a likely intervention)
  • Choice to be treated as a public or private patient
  • Compensable status (e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.)
  • Please note that where appropriate and where available, the referral may be streamed to an associated public allied health and/or nursing service.  Access to some specific services may include initial assessment and management by associated public allied health and/or nursing, which may either facilitate or negate the need to see the public medical specialist.

  • A change in patient circumstance (such as condition deteriorating, or becoming pregnant) may affect the urgency categorisation and should be communicated as soon as possible.

  • Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.