A microarray is the recommended first line genetic test for developmental delay (DD), intellectual disability (ID) and autism spectrum disorders (ASD). A microarray detects the likely cause of a range of developmental concerns in about 15% of referrals.
CMA however, does not identify fragile X syndrome (FXS), a common cause of intellectual disability. Therefore, a DNA test for FXS must be ordered alongside a CMA.
A Medicare rebate is available for both tests and testing can be performed using saliva instead of blood.
Miller, D.T., et al, Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010; 86: 749–764
Battaglia et al., 2013 Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol. 2013 Nov;17(6):589-99)