Specimen:

Blood

Collection Medium:

Minimum:

1-5 mL whole blood in EDTA top tube

Analytic 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

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), 83912(x2)