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Background:  Gene copy number variations (CNVs) are increasingly recognized to play important roles in the expression of genes and hence on their respective enzymatic activities. This has been demonstrated for a number of drug metabolizing genes, such as UDP-glucuronosyltransferases 2B17 ( UGT2B17 ) and sulfotransferase 1A1 ( SULT1A1 ), which are subject to genetic heterogeneity, including CNV. Quantitative assays to assess gene copy number are therefore becoming an integral part of accurate genotype assessment and phenotype prediction.

UGT2B17 and SULT1A1 gene copy number variation (CNV) detection by LabChip microfluidic technology