Common variable immunodeficiency confirmation flow panel

Alphabetical Test listing

Common variable immunodeficiency confirmation flow panel-994

  
Common variable immunodeficiency confirmation flow panel
  
994
  
LAB994
  
MSO
  
  • Screening for common variable immunodeficiency (CVID)
  • Identifying defects in TACI and BAFF-R in patients presenting with clinical symptoms and other laboratory features consistent with CVID
  • Evaluating B cell immune competence by assessing expression of BAFF-R and TACI proteins
  • Assessing BAFF-R and TACI protein expression and frequency of B cells bearing these receptors. TNFRSF13C (BAFF-R) and TNFRSF13B (TACI) gene mutations have been described in a small subset of patients with humoral immunodeficiencies classified as CVID. The majority of TNFRSF13B mutations preserve TACI protein expression and require genetic testing to identify pathogenic or potentially pathogenic mutations/variants.
  
EDTA whole blood
  

Adult:

Two (2) Lavender (EDTA), 4mL

≤14 years of age:

Lavender (EDTA), 4mL

  
>14 years: 10 mL
≤14 years: 4.0 mL
  
>14 years: 5 mL
≤14 years: 3.0 mL
  

Collect samples Mo - Th only

  

Lavender (EDTA), 4mL tube(s)

  

Refrigerated - 48 hours

Specimens are required to be received at the performing laboratory by 4pm, Mo - Fri. No weekend processing.

  
Mayo Clinic Laboratories (CVID): R-NX
  
Mo - Fr
  
3 - 4 days
  

Fluorescent flow cytometry

  
%CD19+TACI+:    >  3.4%
%CD19+BAFF-R+: >90.2%
  

TNFRSF13C (BAFF-R) and TNFRSF13B (TACI) gene mutations have been described in a small subset of patients with humoral immunodeficiencies classified as CVID. The majority of TNFRSF13B mutations preserve TACI protein expression and require genetic testing to identify pathogenic or potentially pathogenic mutations/variants.

  
88184
88185 x 2
  
07/15/2019
  
07/15/2019