Helpful Resources

Genome Analysis Tool

Array CGH reports from GeneDx contain data that can be used to explore genomic regions of interest in the UCSC genome browser. Click here  to sign in  with the username “GenomeDx” and password “report”. Enter the sequence coordinates from the report in the format “chr#:xxxxx-xxxxx”. Array probes are shown on the top half. Questions about array probe coverage or interpretation of findings can be directed to our genetic counselors or clinical cytogeneticists.

The ISCA consortium

GeneDx participates in the International Standards for Cytogenomic Arrays (ISCA) consortium. Anonymized CMA data and clinical information may be submitted to a HIPAA-compliant, de-identified database as part of the National Institutes of Health’s effort to improve diagnostic testing and enhance our understanding of the relationships between genetic changes and clinical symptoms. Visit the consortium website here to find out more information. Confidentiality and full anonymity of each submission is maintained. Please use the current GeneDx cytogenetics test requisition and consent forms when requesting testing. If these GeneDx forms are not sent with the submitted specimen, CMA data will be anonymized and submitted to the ISCA database. If you wish not to have genomic information derived from your submitted sample sent to the database, please email iscaoptout@genedx.com.

Genomic Oligoarray and SNP Array Evaluation Tool v3.0

Significant absence of heterozygosity (AOH) suggests identity by descent (IBD) (e.g. parental consanguinity). Regions of AOH in an individual may have clinical significance if both parents are heterozygous carriers of an autosomal recessive mutation in the same gene located within one of these genomic regions.

References and other resources