Postnatal 180K Exon Array

THIS TEST HAS BEEN DISCONTINUED AND REPLACED WITH THE POSTNATAL HIGH DENSITY SNP ARRAY.

Test name: Postnatal 180K Exon Array
Previously known as: 180K Microarray for Congenital Anomalies/DD/Autism
Also known as: 180K Array 

Indications:

• Congenital anomalies
• Dysmorphic features
• Developmental delay(DD)/Intellectual disability (ID)
• Autism spectrum disorder (ASD)
• Suspected microdeletion/microduplication syndrome
• Family history of a chromosome abnormality 

Test Information:

• A 180K exon array platform is currently used to evaluate for copy number changes including deletions and duplications with resolution at 30 kb for backbone coverage and 2-20kb in targeted regions
• Approximately 1700 genes associated with intellectual disability, epilepsy, autism and heart defects are evaluated in addition to subtelomere regions
• American College of Medical Genetics (ACMG) recommends microarray as a first tier test for those individuals with intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies
• 180K Microarray is more comprehensive and cost effective than ordering multiple FISH tests when considering several microdeletion/microduplication syndromes with overlapping symptoms
• 180K Microarray will not detect single gene mutations, balanced chromosome arrangements such as translocations, or low level mosaicism. If trisomy 13, 18 or 21 is a consideration, chromosome analysis is recommended

revised: 3-20-13