4845

Congenital Neutropenia Panel

Order Code: 4845 Get Requisition Form
Test Information Icon
Test Information
This panel is designed for detection of germline variants in 24 genes known to cause severe congenital neutropenia (SCN), cyclic neutropenia, and syndromic neutropenia with non-hematological manifestations. It can be ordered as: Next Generation Sequencing (NGS) only; NGS with reflex to Array Comparative Genomic Hybridization (aCGH); NGS with concurrent aCGH (both testing methodologies performed simultaneously); aCGH only
Also Known As Icon
Also Known As
  • aCGH
  • AP3B1
  • AP3D1
  • CNV
  • CSF3R
  • CXCR4
  • del
  • del/dup
  • deletion
  • duplication
  • ELANE
  • G6PC3
  • GATA1
  • GATA2
  • GFI1
  • HAX1
  • JAGN1
  • LAMTOR2
  • LYST
  • RAB27A
  • RAC2
  • SBDS
  • SLC37A4
  • TAZ
  • TCIRG1
  • USB1
  • VPS13B
  • VPS45
  • WAS
  • WIPF1
Disease State Icon
Disease State
Congenital Neutropenia
Test Type Icon
Test Type
Genetic Test
Sample Notes Icon
Sample Notes
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS, ACDA Whole Blood, ACDB Whole Blood, Na Heparin Whole Blood
Requested Volume Icon
Requested Volume
3-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, >=1 ug DNA at >=50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)
Minimum / Pediatric Volume Icon
Minimum / Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood
Shipping Information Icon
Shipping Information
Room Temperature or Refrigerated
CPT Codes Icon
CPT Codes
  • 0271U NGS; 81479 aCGH
Method Icon
Method
NGS: Capture hybridization and Next Generation Sequencing with supplementary PCR and bi-directional Sanger sequencing for quality and coverage; aCGH: CNV analysis of specific genes by high density gene-focused array Comparative Genomic Hybridization
Turnaround Time Icon
Turnaround Time
21 days
New York State Approval Icon
New York State Approval
Approved
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DEX Z-Code™
Yes, visit app.dexzcodes.com
 
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Research investigators, postdoctoral fellows and laboratory staff at Versiti Blood Research Institute and Diagnostic Laboratories.
 
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