Cytogenetics

Cytogenetics and Chromosomal Microarray at GeneDx

GeneDx provides comprehensive molecular cytogenetic testing. We offer a high-resolution whole-genome chromosomal microarray (CMA) to evaluate the entire genome for copy number changes to detect deletions or duplications of many genes and to detect regions of homozygosity (ROH) and uniparental disomy (UPD). FISH Follow-Up analysis is available for specific cytogenetic region(s) as a follow-up to a copy number variant reported by GeneDx. Traditional chromosome analysis can be ordered as a stand-alone test or in conjunction with CMA or gene-specific DNA sequencing tests.

Parental testing is often recommended when a patient is found to have a genomic imbalance. This testing is standard of care in many circumstances and also helps interpret findings of unclear significance in a proband.

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