This study helps detect more than 308 OMIM syndromes and other genetic regions responsible for pathology. It is especially indicated in intellectual disability and polymalformative syndromes. In total it covers 115 genes related to autism and neurological disorders.
Deletion 1p36, deletion 15q24, deletion 17q21, 22q13 / Phelan-McDermid, Cri du Chat, DiGeorge 22q11, Langer, Giedion, 8q, Miller-Dieker, 17p, Prader-Willi / Angelman, duplication MECP2 / Xq28, Smith-Magenis, Wagr , Williams, Wolf-Hirschhorn; and Aneuploidias: 13, 18, 21, X, Y.
This test can be used to identify the molecular basis of the disorder in an affected individual. With this study, a greater number of genes related to the same pathology are analyzed. The EXOMA test targets the coding regions of the genes.