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Severe Congenital Neutropenia
Severe congenital neutropenia (SCN) is characterized by a selective decrease in circulating neutrophils, bone marrow maturation arrest at the promyelocyte stage, and occurrence of infections. Typical infections include omphalitis, pneumonia, sinusitis and gingivitis caused by resident bacteria of the skin, mouth, and oropharynx. While all types of severe congenital neutropenia are sometimes called Kostmann disease, [...]
+ Mutation-specific testing + Prenatal testingSevere congenital neutropenia (SCN) is characterized by a selective decrease in circulating neutrophils, bone marrow maturation arrest at the promyelocyte stage, and occurrence of infections. Typical infections include omphalitis, pneumonia, sinusitis and gingivitis caused by resident bacteria of the skin, mouth, and oropharynx. While all types of severe congenital neutropenia are sometimes called Kostmann disease, the extended family actually described in detail by Kostmann had a recessive disorder now known to be caused by mutations in HAX1. A recent observation is that some, but not all, HAX1 mutations are associated with neurological disorders. Mutations in HAX1 are not known to cause any type of cyclic or periodic neutropenia.
+ Mutation-specific testing + Prenatal testingTests Available
ELANE (ELA2) Gene Sequencing
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- ELANE (ELA2)
- Clinical Utility:
-
- Confirmation of a clinical diagnosis
- Prenatal diagnosis
- Lab Method:
- Capillary Sequencing
ORDERING
- Test Code:
- 105
- Turnaround Time:
- 4-6 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 288: Neutropenia Decreased, Absolute Neutrophil Count (ANC); Use additional code for any associated: fever (780.61), mucositis (478.11, 528.00-528.09, 538, 616.81) (776.7)
REFERENCES
- Bellanne-Chantelot, C, Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Registry, Blood 103: 4119-4125, 2004.
- Horwitz, M., Mutations in ELA2, encoding neutrophil elastase, define a 210day biological clock in cyclic haematopoiesis, Nat. Gen. 23:433-436, 1999.
- Dale et al, Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia, Blood 96: 2317-2322, 2000
