Severe congenital neutropenia (SCN) is characterized by severe neutropenia at birth. Bone marrow exhibits arrest of neutrophil maturation at the promyelocyte or myelocyte stage of development. By age 6 months, 90% of patients with SCN develop bacterial infections such as skin or deep tissue abscesses, oral ulcers and pneumonia. Despite improvements in therapy there remains a 12% risk of death due to sepsis by age 15 years. Patients with SCN also have an increased risk of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), with a hazard rate of 2% per year.
Our Severe Congenital Neutropenia Sequencing Panel includes sequence analysis of the following 7 genes: CSF3R, ELANE, G6PC3, GFI1, HAX1, VPS45, WAS.
NOTE: Blood samples are not accepted for patients with suspected severe congenital neutropenia only if there is no history of hematologic malignancies or MDS. Cultured skin fibroblasts is the recommended specimen type for patients with a history of MDS/leukemia (2 T-25 flasks). Please contact the laboratory for more information about specimen requirements.
Please use our Hereditary Cancer Requisition Form to order this test.
Any gene in the Severe Congenital Neutropenia Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.