Severe Congenital Neutropenia Panel

Severe congenital neutropenia (SCN) is a disorder of neutrophil production.  Bone marrow typically exhibits arrest of neutrophil maturation at the promyelocyte or myelocyte stage. Children with SCN typically present with severe neutropenia, fever, and recurrent infections of the upper respiratory tract, lungs and skin. The symptoms of these disorders typically present at or shortly after birth. Patients are also at an increased risk for developing hematologic malignancies such as acute myeloid leukemia and myelodysplastic syndrome. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.