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How does Deletion/Duplication analysis differ from other Diagnostic Tests done by DNA sequencing?

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How does Deletion/Duplication analysis differ from other Diagnostic Tests done by DNA sequencing?

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Deletion/duplication analysis is a specialized service for the detection of a whole or partial gene deletion or duplication in a single known gene of interest. Our deletion/duplication analysis is based on the innovative use of quantitative PCR-technology, which has a higher sensitivity for detecting deletions and duplications compared to FISH. It can be ordered for: • Analysis on any gene on our current test menu in which a deletion/duplication is suspected ( http://www.genedx.com/tests_by_gene.php ) • As a second tier test on a specimen previously sequenced at GeneDx (a discount applies). • For any gene not on our test menu; GeneDx will custom design a quantitative PCR assay for any gene in which a deletion/duplication is suspected in a patient. Deletion/duplication testing using CopyDx and/or MLPA sounds very similar to GenomeDx. What are the similarities and differences between these two tests? • Both tests, Deletion/duplication analysis and GenomeDx, allow us to determine how many

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