Sign in →

Test Code SCNPnl UM Severe Congenital Neutropenia Panel

Clinical System Name

Severe Congenital Neutropenia Panel

Synonyms

SCN sequencing panel

ELANE
HAX1
G6PC3
GFI1
WAS

Description

Severe Congenital Neutropenia (SCN) comprises a heterogeneous group of disorders of myelopoiesis with varying symptoms and patterns of inheritance. SCN is characterized by absolute neutrophil counts (ANC) consistently below 500/ul and severe systemic bacterial infections beginning in early infancy (Boxer and Newburger. Pediatr Blood Cancer 49:609-614, 2007). Symptoms include recurrent fevers, sinusitis, gingivitis and other soft tissue infections. SCN is a premalignant condition which can progress to myelodysplastic syndrome and acute myeloblastic leukemia (MDS/AML). The risk of malignancy increases upon G-CSF treatment (Gilman et al. Blood 36:576-585, 1970; Freedman et al. Blood 96:429-436, 2000; Rosenberg et al. Blood 107:4628-4635, 2006).

Sample Requirements

Specimen: Whole Blood

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

Preferred Vol: 5 mL

Minimum Vol: 2 mL

 

Notes

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15μg at a concentration of 20 μg/ml

Minimum Vol:

 

Notes: For tests involving the sequencing of  more than three genes, send an additional 5 µg DNA per gene.  DNA may be shipped at room temperature.Label the tube with the DNA concentration as well as the patient name, date of birth, and/or ID number.  Specify the composition of the solute.

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
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 4 w

 

Performing Laboratory

Prevention Genetics

Department

Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

 

Reference Range

Interpretive report is provided.

Methodology

Method: This test involves bidirectional, full-gene DNA sequencing of the ELANE, HAX1, G6PC3, GFI1 and WAS genes plus ~20 bp of flanking non-coding DNA on either side of each exon. The genes will be tested sequentially in the order specified by the client.

Analytical Volume:

Limitations:

CPT Codes

81406x1, 81479 x4                 (updated 4/09/2015 by sstasi) 

Clinical Utility

x

Send Out Instructions

Reference Test Name: Severe Congenital Neutropenia Sanger Sequencing Panel
Reference Test Number: 445
Instructions: Ship ambient via FedEx. Keep a copy of the requisition for our records.