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Test Code ELA2 UM ELA2 DNA Sequencing

Clinical System Name

ELA2 DNA Sequencing

Synonyms

Congenital Neutropenia

Cyclic Neutropenia

ELANE

Elastase 2

Neutrophil Elastase

Description

Severe congenital neutopenia (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. While all types of severe congenital neutropenia sometimes are called Kostmann disease, the extended family studied by Kostmann had a recessive disorder now known to be caused by mutations in HAX1, not ELANE.

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.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 5 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  5,000 ng (5 µg) at concentration of 50 ng/µL

Minimum Vol:

Processing Instructions

Reject due to: Buccal brushes are not acceptable.

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Refrigerate in CPA refrigerator Sendouts rack. Samples drawn on a Friday can be refrigerated until Monday shipment. Store remaining labels in the clear plastic box on the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 8-10 w

 

Performing Laboratory

GeneDx

Department

Department:  GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877

Phone Number: (301) 519-2100

Reference Range

Interpretive report is provided.

Methodology

Method: Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 1-5 of the ELANE 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.

Analytical Volume:

Limitations:

CPT Codes

81479     (updated 11/20/14 by dstern)

Special Instructions

Links to:

 

GeneDx

 

Clinical Utility

GeneReviews:

 

Send Out Instructions

Reference Test Name: ELANE (ELA2)
Reference Test Number: 105
Instructions: GeneDx accepts Saturday delivery. Whole blood specimens may be stored refrigerated for up to 7 days prior to shipping. Ship whole blood overnight via FedEx, ambient temperature.