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.
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 email@example.com.
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
- Ming, JE et al., (2006) Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Hum Mutat. 27(5):467-473.
- Aradhya, S and Cherry, AM (2007) Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. Genet Med. 9(9):553-559.
- Thuresson, AC et al., (2007) Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation. Cytogenet Genome Res 118(1):1-7.
- Aradhya, S et al., (2007) Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am J Med Genet A. 143A(13):1431-1441.
- Toruner, GA et al., (2007) An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation. Am Je Med Genet A. 143A(8):824-829.
- Shaikh, TH (2007) Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med 9(9):617-625.
- Baris, HN et al., (2007) Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 143A(21):2523-2533.
- McMullan et al., (2009) Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat. 30(7):1082-1092.
- Miller et al., (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 86(5):749-764.
- Kearney et al., (2011) American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 13(7):680-685.
- Sanders et al., (2011) Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron. 70(5):863-885.
- Bremer et al., (2011) Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet. 156(2):115-124.
- American College of Medical Genetics (ACMG) Practice Guidelines: Microarray / CMA/ CGH