Test & specimen information
Exome - childhood syndromes
Overview
An exome can be used in cases where a child has intellectual disability and/or developmental delay and where an explanation has not been found from previous testing, such as a chromosome microarray. A Medicare item number exists for exome testing for childhood syndromes and intellectual disability.
Test type
Exome sequencing
Turnaround time
Trio: 8-10 weeks
Singleton: 4-6 months
Cost
Bulk billed where eligible.
Relevant links
Notes
This bulk billed exome differs to our comprehensive exome in that:
- Gene panels must be selected from the phenotype specific, pre-curated panels available vial PanelApp Australia. 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.