Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS

Gene chip analysis was performed using the Infinium OmniZhongHua-8 v1.3 BeadChip (Ilumina, Inc.). This method is used to detect ~240 CNV-affected genetic diseases/regions, including uniparental disomy and polyploidy. To identify copy number and CNV variations on chromosome 3 and in the vicinity of VHL, compared to a new assay called MLPA-NGS, we analysed individual hybridizations conducted on Infinium OmniZhongHua-8 v1.3 BeadChip (Ilumina, Inc.). Sample types included normal blood. The genotypes of the study samples were determined using Gene chip analysis. IMPUTE2 was utilized to impute supplementary autosomal single nucleotide polymorphisms (SNPs). The genotype assignments were grounded on the phase 3000 Genomes cosmopolitan reference panel.