Additional Information

This quantitative polymerase chain reaction (qPCR) assay detects copy number in a targeted region in the genome. A gene within the region of interest is tested along with a separate normal locus that is used as an internal standard. Results from the patient sample are compared to a reference sample that contains two copies of the tested locus. At least three replicates are performed on each sample for each gene. A dissociation curve is generated for all reactions and reactions are run on agarose gels to verify the presence of a single band.