Genetic Testing

• Neuromuscular disorders: disorders affecting the nerves and/or muscles and how they function.
  • Neuromuscular gene panel – Item Number 73422
    • Characterisation of a gene variant or gene variants using a gene panel, in a patient presenting with clinical signs and symptoms suggestive of a genetic neuromuscular disorder (other than signs and symptoms associated with variants that are not detected by massively parallel sequencing), if the service is requested:
      • by a specialist or consultant physician; and
      • after exclusion of non‑genetic causes
    • Applicable once per lifetime

• Cardiomyopathy: disorders affecting the cardiac muscle resulting in cardiac hypertrophy, dilatation or arrythmia.
  • Cardiomyopathy gene panel –Item number 73392
    • Eligible for a patient for whom clinical history, family history or laboratory findings suggest there is a high probability of one or more of the following heritable cardiomyopathies in the patient:
      • hypertrophic cardiomyopathy;
      • dilated cardiomyopathy;
      • arrhythmogenic cardiomyopathy
    • Applicable once per lifetime

• Cardiac Arrythmia: disorders of cardiac arrythmia or suspected channelopathy
  • Cardiac Arrythmia panel – Item number 73416
    • Eligible for a patient for whom clinical or family history criteria is suggestive of inherited cardiac arrhythmia or channelopathies that place the patient at greater than 10% risk of having a pathogenic variant
    • Applicable once per lifetime

• • This testing can be performed with Medicare rebate via local genetics laboratories.

Asymptomatic biological relatives of affected individuals, known to carry an amyloidogenic variant, are eligible for MBS supported predictive genetic testing. This is also known as Cascade testing.

• Please note that if requesting predictive testing, two independent samples are required which MUST be collected at least 15 minutes apart.
• This testing can be performed with Medicare rebate via the Children’s Hospital Westmead or local laboratories.

• • Neuromuscular gene testing: Item number 73423
    • Detection of a single identified gene variant, in a biological relative of a person with a germline gene variant for a neuromuscular disorder identified by a service described in item 73422, 73425 or 73426, if the service is requested by a specialist or consultant physician
    • Applicable once per variant

• • Cardiomyopathy gene panel – item number 73393
    • genetic testing of first-degree biological relatives (or second-degree, where a first-degree relative is unavailable) of an individual who is known to carry a genetic variant(s) associated with heritable cardiomyopathies in order to assess for the present or future risk of heritable cardiomyopathies including:
      • hypertrophic cardiomyopathy;
      • dilated cardiomyopathy;
      • arrhythmogenic cardiomyopathy

• • Cardiac Arrythmia panel – Item number 73417
    • genetic testing of first- or second-degree relatives of an individual who is known to carry a genetic variant(s) associated with inherited cardiac arrhythmias or channelopathies

For a discussion around family planning options that are available when there is a confirmed genetic condition in the family please refer to the patient’s local genetics service. For a list of genetics services please see: www.genetics.edu.au.

For a list of Clinical Genetics services across Australia as well as genetic counselling resources and factsheets please see www.genetics.edu.au

• Pathology request – Please state on the request form:
  • Clinical information/reason for testing
  • Type of genetic testing required for example:
    • hypertrophic cardiomyopathy gene panel (?Amyloidosis TTR)
    • Sensorimotor neuropathy gene panel (?Amyloidosis TTR)
  • MBS Item number
  • Indication that other causes have been excluded.
  • Request needs to have the patient’s Medicare Number and patient signature for MBS eligibility
  • If requesting predictive testing please provide the family’s inherited point mutation. Please note that if requesting predictive testing, two independent samples are required which MUST be collected at least 15 minutes apart.
• A signed genetic consent form must be kept in the patient file or forwarded to the laboratory with the request.

• Genetic Consent Form – Molecular testing labs required consent for genetic testing to be held in the laboratory as part of their NATA accreditation. Consent forms should be emailed to the laboratory or accompany the request form.
  • NSW Consent Forms can be accessed here
  • A general consent form and resources for consent can be accessed here

• Blood samples are typically performed
  • > 5 mL whole blood in EDTA Tube
  • Transport at room temperature
  • Store at 4 degrees if prolonged delay. Do NOT freeze.
• Less frequently saliva or other tissues can be utilised
• Please note that if requesting predictive testing, two independent samples are required which MUST be collected at least 15 minutes apart
• NOTE: if a patient attends a private collection centre for blood collection they may be charged an additional transport fee.

TAT: Turnaround times for genetic testing can vary based on demand and availability of testing. Please contact the laboratory directly for current TAT.