Are CNV results from genetic labs allele specific?

03 April 2017 1 4K Report

I would like to know if results for copy number variants from pharmacogenetics testing labs typically are specific for allelic variants. For example,could the result reported as CYP2D6*1/*1N4 actually be CYP2D*1/*4N4?

Alexander Rakitko

Yes, it definitely could be CYP2D*1/*4N4

It's quite important to list all tested SNPs. If rs3892097 wasn't genotyped then we couldn't distinguish *1 from *4

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