The following link opens a genome browser to allow for visualization of probe coverage on the Cytoscan HD platform used in the CMA SNP and ARRAY POC tests. Each individual tick mark near the bottom of the browser shows the location of a probe on this platform. Genomic locations can be specified in the box at the top as either gene names or chromosome location.
Determination of a copy number call is primarily based on the genomic content and the number of involved probes as this relates to the confidence of the call. Please note that calls with fewer than 25 probes for a deletion or 50 probes for a duplication may not be confidently called. Deletions smaller than 50 kb and duplications smaller than 400 kb may not be reviewed. Detected copy number variations (CNVs) are reported when found to have clear or suspected clinical relevance; CNVs devoid of relevant gene content or reported as common findings in the general population may not be reported.
Failure to detect an alteration at any locus does not exclude all anomalies at that locus. For specific requests to scrutinize a genomic interval, please contact the laboratory at (800) 242-2787, ext. 2141.
CytoScanHD Merged Viewer
Note: The link above is a Java application that will be downloaded to your computer. You will need to have the latest version of Java installed to open and view these applications, which can be downloaded from http://www.java.com.