Cytogenomic SNP array (postnatal)

Cytogenomic SNP array is offered as a postnatal first-tier test appropriate for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay/intellectual disability or autism spectrum disorders as recommended by the American College of Medical Genetics.  Copy number variations identified by cytogenomic SNP array are also identified in 5-30% of individuals with epilepsy. Cytogenomic SNP array is also appropriate for:  follow-up testing for individuals with the phenotypes listed above with a previously normal chromosome analysis result; clarification of size, precise breakpoints or gene content of abnormalities detected by routine chromosome analysis or FISH studies; to rule out cryptic copy number changes (imbalances) at the breakpoints of apparently balanced chromosome rearrangements and for the identification of long contiguous stretches of homozygosity. This testing may also be used to determine sex chromosome composition in patients with ambiguous genitalia or disorders of sex development.