Overview

A Medicare item number exists for exome testing for childhood syndromes and intellectual disability (item# 73358). Testing must be requested by a clinical geneticist or paediatrician and meet the Medicare eligibility criteria.

Medicare eligibility criteria: Childhood syndromes

Characterisation of germline variants known to cause monogenic disorders via whole exome or genome sequencing and analysis, as requested by a clinical geneticist or a consultant physician practising as a specialist paediatrician in consultation with a clinical geneticist in a patient aged ten years or younger with a strong suspicion of a monogenic condition based on the presence of any one of the two following clinical criteria:

1. dysmorphic facial appearance and one or more major structural congenital anomalies; or

2. intellectual disability or global developmental delay of at least moderate severity to be determined by a specialist paediatrician.

Performed only after non-informative microarray testing (item# 73292) of the patient.

The bulk billed exome differs to our comprehensive exome in that:

  • Gene panels must be selected from the phenotype specific, pre-curated panels available on the PanelApp Australia website. Custom gene panels are not accepted.
  • Analysis will be focused on variants that match the expected inheritance patterns.
  • Additional requests to search for unrelated conditions or carrier status, and upgrade options such as rapid turnaround time, are not available.
  • Standard turnaround time of up 9 months.

Category

Cost

Bulk billed test

Reporting time

Up to 9 months

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

Saliva sample

EDTA blood:
Child: 1-3 ml