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Severe Congenital Neutropenia
ELA2 (Neutrophil Elastase, NE, Elastase 2)
HAX1 (HS1-associated protein X1)
Cyclic Neutropenia
ELA2 (Neutrophil Elastase, NE, Elastase 2)
SCN is also known as Kostmann disease or congenital agranulocytosis. The majority of mutations in SCN involve the ELA2 gene. ELA2 mutations are dominantly inherited and usually sporadic. The recessive form of SCN is associated with mutations in HAX1.
The only known gene causing CN is ELA2.
Sequence analysis of the 5 exons of ELA2 and/or the 7 exons of HAX1 can be ordered on a single specimen, concurrently or sequentially.
The preferred specimen type for optimal turn-around time is blood (EDTA, 1-5 mL), but buccal (cheek) brushes will be accepted. Buccal brushes must be used for any DNA test if the patient has had a blood transfusion within 120 days or a bone marrow graft; please use only GeneDx's buccal kits.
ELA2 Information Sheet, including prices and CPT codes
ELA2 Consent Document
HAX1 Information Sheet, including prices and CPT codes
HAX1 Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Neutropenia, Congenital neutropenia, Cyclic neutropenia, Neutropenia, Kostmann, ELA2, ELA, neutrophil elastase, elastase, bone marrow, agranulocytosis
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