The complete sequencing of EXOMA can be used to identify the molecular basis of the disorder in an affected individual. The EXOMA test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously.
The EXOMA test targets the coding regions of the genes. These specific regions of an individual’s genes, called exons, are captured and sequenced using massive sequencing. The sequence of an individual is then compared with reference sequences published in international databases which helps to identify the causal variants that could explain the disorder in the affected patient.