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 uniparental disomy (UPD), and to detect single-gene deletions or duplications. Traditional chromosome analysis and FISH studies can also be ordered as stand-alone tests 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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