Genomic testing - childhood syndromes
Overview
Genomic testing 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 genomic testing for childhood syndromes and intellectual disability.
Send EDTA blood samples to access comprehensive whole genome sequencing. If blood collection is difficult, ORAcollect saliva samples can be collected for exome testing.
Test type
Exome sequencing
Whole genome sequencing (WGS)
Turnaround time
Trio: 8-10 weeks
Singleton: 4-6 months
Cost
Bulk billed where eligible.
Relevant links
Notes
Benefits of trio testing
Trio testing is highly recommended for a faster and more definitive result.
Trio testing provides inheritance information in the one test which helps with variant classification and means additional parental testing may not be required.
Benefits of genome testing
Analysis of WGS data already enables the detection of more disease-causing variants, such as variants in non-coding and mitochondrial genes and regions.
In future, an even wider range of complex variants will be detectable, through improved bioinformatics, including repeat expansions and structural variants. Future automated re-analysis processes will ensure that patients with WGS data benefit from new knowledge well beyond the initial report.