Genetic TestsCongenital Neutropenia (ELANE Gene)

• Test Name: Congenital Neutropenia (ELANE Gene)
• Test Code: 3634

• “Neutropenia, severe congenital 1, autosomal dominant” (OMIM #: 202700) || Gene: ELANE (OMIM #: 130130)
• “Neutropenia, cyclic” (OMIM #: 162800)

• Elastase, Neutrophil-Expressed
• Elastase 2 (ELA2)

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Hematogenetics