TABLE 5

Summary of Genetic Testing in ASD

TestAbnormal Results
Fragile X DNA, n/N (%)2/852 (0.23)
G-banded karyotype, n/N (%)19/852 (2.2)
Chromosomal microarray, n/N (%)
    Variant (s) identified204/848 (24.1)
    Clinically significant59/848 (7.0)
    Deletions, n/N (% of abnormal results)37/59 (62.7)
            De novo, n (% of deletions)16 (43.2)
            Maternally inherited5 (13.5)
            Paternally inherited2 (5.4)
            Unknown15 (40.5)
        Duplications, n/N (% of abnormal results)22/59 (37.3)
            De novo, n (% of abnormal duplications)12 (54.5)
            Maternally inherited4 (18.1)
            Paternally inherited1 (4.5)
            Unknown5 (22.7)