Bulk billed exome for childhood syndromes
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 (ie prior to their 11th birthday) 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 6 months.
Category
Cost
Bulk billed test
Reporting time
Up to 6 months
Contacts
P: 1300 118 247
E: [email protected]
Specimen Requirements
Saliva sample (via ORACollect saliva kit - which can be sent directly to your patient when ordering via our online test request system)
EDTA blood:
Child: 1-3 ml