Severe Congenital Neutropenia
Order Code: ELA2
Epic Lab Code: LAB4819
Order Form: A-1a Miscellaneous Request or Epic Req
Commercial Mail-out Laboratory
01250 PFP
356-3527
Specimen:
Blood
Collection Medium:
Lavender top tube 4 mL (EDTA)
Minimum:
1-5 mL whole blood in EDTA top tube
Turn Around Time:
6 weeks
Interpretive Data:
Severe congenital neutropenia (SCN) and cyclic neutropenia (CN) are severe disorders of neutrophil production that cause lifelong problems with recurrent infections. Congenital neutropenia is characterized by very low non-oscillating neutrophil counts with normal hemoglobin and platelet levels. Typical infections include omphalitis, pneumonia, sinusitis and gingivitis. The bone marrow shows a selective defect in neutrophil formation with promyelocytic maturation arrest. Cyclic neutropenia often but not always follows a 3-week cycle of neutropenia, fever and mouth ulcers. Diagnosis is usually made in infancy and infections may lessen in severity with age.
Comments:
Please print, complete and submit the following forms to the lab, with the specimen and the A-1a Miscellaneous Request:

Informed Consent for DNA Testing and the Sample Submission Form - Testing Services for Rare Mendelian Disorders from GeneDx DNA Diagnostic Experts.
Methodology:
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 1-5 of the ELA2 gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
CPT Code:
83891(x10), 83892(X2), 83894(x10), 83898(x10), 83904(x10)