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

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE294798 | GEO | 2025/05/05

REPOSITORIES: GEO