ELANE Sequencing

Test Background

ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia characterized by recurrent fever, skin and oropharyngeal inflammation, and cervical adenopathy. The detection rate for cyclic neutropenia is approximately 90-100% and for congenital neutropenia is about 80%.

This laboratory performs Sanger sequencing of the ELANE gene.

Gene(s)