Customised gene panel of human patient with GATA2 deficiency or relative: peripheral blood mononuclear cells
Genomic DNA was extracted from the peripheral blood mononuclear cell samples with the DNeasy Blood and Tissue Kit (Qiagen). An indexed library was prepared for each sample; libraries were enriched for target regions that were hybridised with probes for 154 genes associated with hematologic neoplasms and bone marrow failure syndromes. Libraries were prepared with 50 ng DNA and the SureSelect QXT Target Enrichment System for Illumina Paired-End Multiplexed Sequencing (Agilent Technologies) according to the manufacturers recommendations. Sequencing was performed on a NextSeq equipment with the NextSeq 500/550 Mid Output v2.5 Kit for 300 cycles (Illumina).