In order to identify the molecular etiology underlying the disease, we perform targeted next generation sequencing (NGS) using the Next Seq 550 Illumina System and custom designed gene panel, comprising 660 genes related to immunological diseases, including congenital neutropenia.

Analysis are carried out using several bioinformatic tools, such as Variant Studio and Integrative Genomics Viewer, and databases such as ClinVar, ExAC, OMIM, HGMD etc. The revealed variants are verified by Sanger sequencing.

Patients with no results will undergo further analysis including the whole exome sequencing (WES) procedure which is likely to identify the putative cause associated with neutropenia.