Metabolic genetics disorders

ADULT PAEDIATRIC

  • If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or follow local emergency care protocols or seek emergent medical advice if in a remote region.

    • No emergency indicators identified for General Genetics; routine prioritisation applies
    • A referral for both parents of a child (if available) is very useful.
    • If the patient is an UNTESTED blood relative of an individual with an identified gene mutation/chromosomal anomaly, please refer to the following within the Genetics CPC:
    • Patients/carers will be asked to provide detailed family information during a video telehealth or telephone consultation. 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.
    • If the patient has a very limited life expectancy, arrange for a blood collection of 2x4mL EDTA tubes to be sent to the Molecular Genetics Laboratory, Pathology Queensland (RBWH) for “DNA extraction and storage” prior to or at the time of referral.
    • Clinical urgency is the dominant consideration in the prioritisation of a referral for a child currently in out of home care (OOHC), or at risk of entering or leaving OOHC.
    • The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded genetic test.

    Clinical and patient resources

Minimum Referral Criteria
Category 1
(appointment within 30 calendar days)
  • A pregnancy in which BOTH of the following criteria are met:
    • individual or their partner has a personal and/or family history of a metabolic genetic diagnosis (see examples in category 3)
    • an opinion/assessment will guide investigations, management, and outcome in pregnancy

    • Please refer to Prenatal and reproductive genetics within the Genetics CPC
Category 2
(appointment within 90 calendar days)
  • Individual with a confirmed or suspected metabolic genetic diagnosis (see examples in category 3) AND a limited life expectancy
Category 3
(appointment within 365 calendar days)
  • Individual with a confirmed or suspected metabolic genetic diagnosis. Examples include:
    • mitochondrial disorders
    • adrenoleukodystrophy
    • Fabry disease
    • glycogen storage diseases
    • hereditary amyloidosis
    • lysosomal storage diseases
  • mucopolysaccharidoses
    • Niemann-Pick disease
    • ornithine transcarbamylase deficiency
    • phenylketonuria
    • Smith-Lemli-Opitz syndrome
    • Tay-Sachs disease
    • Gaucher disease
    • Wilson disease
    • Zellweger syndrome
    • SCAD/MCAD/LCHAD/VLCAD deficiency
    • carnitine palmitoly transferase deficiency
    • congenital disorders of glycosylation
  • Individual who has a blood relative with a confirmed metabolic genetic diagnosis (see examples above), where a specific gene mutation HAS been identified

Please insert the below information and minimum referral criteria into referral

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)
  • Clinical judgement indicates a referral for specialist review is necessary

2. Essential referral information Referral will be returned without this

  • GHQ does NOT provide management advice for metabolic genetic disorders. Consider a concurrent referral to a metabolic specialist if appropriate.
  • Clear indication of clinical need for urgency (see above)
  • As much detail as possible about the patient's personal history of disease including the following:
    • clinical diagnosis and/or clinical features
    • treatment (completed and planned)
    • relevant family history (blood relatives)
  • Relevant non-genetic investigations and clinical assessments:
    • pathology (e.g. haematology, biochemical, histopathology, urine metabolic screen and MPS EPP)
    • imaging (e.g. USS, CT, MRI, X-ray)
    • organ/speciality specific (e.g. enzyme analysis)
    • speciality specific report

    • Please indicate on referral if results are available within ieMR and/or Auslab

  • Details and results of genetic testing (if performed)

    • Please indicate on referral if results are available within ieMR and/or Auslab

  • Confirmation of out of home care (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 including:
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
  • GHQ reference number (GF) if the family is known to GHQ
    • attach the “family information letter” if available
  • Family reference number and name of the service if the family are known to another genetic service
    • attach the “family information letter” if available
  • To preserve confidentiality, do NOT include details or attach reports which identify another family member with the referral

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.)

  • If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or follow local emergency care protocols or seek emergent medical advice if in a remote region.

    • 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.

Last updated: 4 December 2024

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