Robust Dosage PCR (RD‐PCR) for Highly Accurate Dosage Analysis

Abstract

Clinical diagnostic and epidemiological assays would benefit from accurate detection of duplications and deletions commonly missed by conventional methods of polymerase chain reaction (PCR) amplification and sequencing of individual exons. Robust dosage-PCR (RD-PCR) is a quantitative PCR method that co-amplifies a target template and an endogenous internal control (an autosomal and an X-chromosomal segment) for detection of these mutations. RD-PCR has the advantage of high accuracy and consistency, rapid assay development, widely available controls, and gene dosage over a wide dynamic range.