Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).

Multiallelic copy number variants are genomic loci that can be present in a range of different copy numbers between individuals. High or low copy numbers of specific genes have been associated with different diseases. Precise genotyping of these loci can be complicated, and relies on accurate assays. Multiplex ligation-dependent probe amplification (MLPA) is a PCR-based approach that allows copy number determination of up to 50 genomic loci in a single reaction. In this chapter, we outline the basic protocol, with a particular emphasis on the appropriate approach to accurately genotype multiallelic copy numbers.