A consensus statement by International Collaboration for Clinical Genomics (ICCG) recommends that Chromosomal MicroArrays (CMA) should be
the first tier test for individuals with developmental disabilities, intellectual disabilities, autism spectrum disorders, or multiple congenital
anomalies. CMA testing is also indicated for individuals with seizures and other developmental problems for which a genomic basis is suspected.
The single test screens for chromosomal aberrations such as aneuploidies, submicroscopic abnormalities that are too small to be detected by conventional karyotyping covering about 200 genetic syndromes and traits. These include Down syndrome, Patau syndrome, Edwards syndrome, DiGeorge syndrome, 1p36 aberrations, Prader-Willi/ Angelman syndrome, amongst others.
Who should get carrier testing done
- Child displaying Developmental delay, Learning Disability, Symptoms of autism spectrum disorders, or multiple congenital anomalies
- Case of Fetus with one or more major structural abnormalities identified on ultrasonographic examination
- Cases of intrauterine fetal demise or growth retardation when further cytogenetic analysis is desired