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DISEASE-SPECIFIC OR PHENOTYPE SPECIFIC FUNCTIONAL TESTS (EXCLUDING T CELL AND NK CELL FUNCTION TESTS)

CD40L Expression/Upregulation (Screening for XHIGM)

BCH-CFCL
Immunophenotyping of CD40 Ligand (CD154)- positive T lymphocytes, which reports: CD3+CD8-CD154+, CD3+CD8-CD69+.
Test code(s): CD40 Ligand assay
CALGARY-CLS
CD40L (CD154) expression is assessed on CD3+4+8- cells after PMA/Ionomycin activation. Testing includes assessment of CD40 on B cells.
Test code(s): LINK
MAYO-ML
Evaluation of CD40L Upregulation, also includes assessment of binding to receptor using soluble CD40-muIg.
Test code(s): XHIM; #82964
MCW-CIRL
HIGM Panel Includes: CD3, CD4, CD8, CD154, CD40-Fc, CD19, CD40, CD16, CD56, CD14, CD45 Measures CD40 expression on B cells and CD40L expression on activated CD4 cells. Measures binding of CD40L on activated CD4 cells to recombinant CD40 (CD40-muIg).
Test code(s): HIGM
NJH-ADL
Analyzes CD40L expression in whole blood, gating on CD3+/CD8- T cells. Reports qualitative result – absent/present.
Test code(s): CD40L

DHR/Oxidative Burst (Screening for CGD)

ARUP
Neutrophil Oxidative Burst Assay (DHR). White blood cells are incubated with dihydrorhodamine 123 (DHR) and catalase, then stimulated with Phorbol 12-Myristate 13-Acetate (PMA). Dihydrorhodamine oxidation to rhodamine by the respiratory burst of the cell is measured by Semi-Quantitative Flow Cytometry.
Test code(s): 0096657
BCH-CFCL
Neutrophil’s Oxidative Burst, which reports: Neutrophil Oxidative Index (MFI DHR+ / MFI DHR-), and % Responding Polymorphonuclear Cells.
Test code(s): DHR assay
CALGARY-CLS
Functional CGD screening assay, using DHR123 loaded neutrophils pre and post stimulation with PMA to induce oxidative burst reaction.
Test code(s): NFUN
CCHMC-DIL
Classic dihydrorhodamine (DHR) 123 assay.
Test code(s): Neutrophil Oxidative Burst (DHR)
CHCO- Immunology Lab
Dihydrorhodamine 123 Neutrophil oxidative burst (DHR). Reports stimulation index
Test code(s): LAB7757
CHLA-DIFL
Chronic granulomatous disease diagnostic screening assay for oxidative burst using dihydrorhodamine (DHR) 123.
Test code(s): CGD Flow
IOWA
Classic dihydrorhodamine (DHR) 123 assay with PMA stimulation.
Test code(s): SPL8
MAYO-ML
Classic dihydrorhodamine (DHR) 123 assay.
Test code(s): DHR (for both PMA and fMLP stimulants); #62764; DHRP (only for PMA); #62765; DHRF (only for fMLP); #62766.
MCW-CIRL
NPF Panel Includes: CD45, CD15, CD18 Dihydrorhodamine (DHR) 123 assay. Measures the ability of neutrophils to generate an oxidative burst following stimulation with PMA or fMLP. The expression of CD15 and CD18 on neutrophils is also measured. Screening test for chronic granulomatous disease (CGD) and leucocyte adhesion deficiency type I and type II.
Test code(s): NPF (Formerly NEUOXB)
NPF Panel: CD45, CD15, CD18 Dihydrorhodamine (DHR) 123 assay. Measures the ability of neutrophils to generate an oxidative burst following stimulation with PMA or fMLP. The expression of CD15 and CD18 on neutrophils is also measured. Screening test for chronic granulomatous disease (CGD) and leucocyte adhesion deficiency type I and type II.
Test code(s): NPT (formerly NEUOXB)
MONTREAL-SJH
Neutrophil’s oxidation (DHR) by flow cytometry.
Test code(s): Activité Oxidative des Neutrophiles
NJH-ADL
Classic dihydrorhodamine (DHR) 123 assay. Offers NBT assay as back up.
Test code(s): DHR; NBT
NSUH
Neutrophil oxidation assay uses dihydrorhodamine (DHR) 123 and PMA. Report includes MFI ratio.
Test code(s): DHR
QUEST
Neutrophil Function, Oxidative Burst. Classic dihydrorhodamine (DHR) 123 assay.
Test code(s): 37523
UCLA-UIC
Classic dihydrorhodamine (DHR) 123 assay with PMA stimulation.
Test code(s): GOB
VIRACOR
Oxidative Burst: Whole blood is stimulated with PMA or buffer alone, Formation of the reactive oxidants during the oxidative burst is monitored by the addition and enzymatic oxidation of a fluorogenic substrate, DHR 123. The level of reactive oxygen radicals is determined by flow cytometry.
Test code(s): 403002

DNA Double-strand Break Repair Assessment in Lymphocytes

NCH
DNA Double-strand Break Repair Assessment in Lymphocytes – This test is useful for the diagnosis of monogenic defects associated with defects in DNA repair and associated radiosensitivity (XCIND - X-ray irradiation susceptibility, Cancer predisposition, Immunodeficiency and Neurological Defects), bone marrow failure syndromes, short telomere syndromes, excessive toxicity to chemotherapy and radiation. This test can be used to develop appropriate conditioning regimen selection in patients with these defects who require hematopoietic cell transplantation. DDRFL primarily assesses for the presence of DNA double-strand breaks in each lymphocyte subset (T, B and NK cells) and the associated repair mechanism (NHEJ, non-homologous end-joining), and excessive cell death following irradiation of lymphocytes. Markers used in this assay include CD45, CD3, CD19, CD335 (NKp46), pATM, pSMC1 and gamma H2AX. The test measures viability in the sample at baseline (Day 0), 1h and 24h radiosensitivity, and 24h assessment of cell death and apoptosis after irradiation.
Test code(s): DDRFL

Functional Screen for XIAP Deficiency/XLP2

MCW-CIRL
Assay tests TLR4 function by assessing the ability of monocytes to produce TNF-α in response to LPS and MDP (to test XIAP function) stimulation. Defective response can be seen in IRAK4/MyD88 deficiency and XIAP deficiency.
Test code(s): TLREC/XIAP

GMCSF Receptor Function

CCHMC-DIL
Measurement of STAT5 phosphorylation following GMCSF stimulation. (GMCSF autoantibody testing also available.)
Test code(s): GM-CSF Receptor Stimulation
MONTREAL-SJH
Measures phosphorylation/dephosphorylation STAT5 (IL2, IL3, IL15, and GMCSF-induced) by flow cytometry.
Test code(s): Étude functionnelle and indicate yourself
NJH-ADL
ELISA measurement of GM-CSF autoantibodies, and reflex testing of P-STAT5 inhibition for positive samples.
Test code(s): GMCSFA

IL-10R Function Screen

MCW-CIRL
Assay measures the ability of IL-10 to suppress IL-6 synthesis from monocytes in response to LPS stimulation, which is dependent on the functional integrity of the IL10 receptors and STAT3. Detects functional defects due to IL10R deficiency or autosomal dominant mutations in STAT3 leading to the Hyper-IgE Syndrome.
Test code(s): CYTIBD

Lymphocyte Apoptosis

CCHMC-DIL
Fas-mediated apoptosis assay. T cells are treated with APO-1-3 and protein A to induce cell death, following a 11 day culture, using Concanavalin A and IL-2. The % cell loss is calculated and reported.
Test code(s): Apoptosis (Fas, mediated)

Mendelian Susceptibility to Mycobacterial Disease

MCW-CIRL
MSMD Panel: CD3, CD4, CD8, CD45RA, CD45RO, CD16, CD56, CD19, CD14, CD45, HLA-DR, CD212, CD119, IL-12, pSTAT1, pSTAT4 Measures expression of INF-R1 and IL12-1 receptors (CD119 and CD212), INF induced STAT1-phosphorylation and IL-12-induced STAT4-phosphorylation as well as IL12 production. Screening assay to detect genetic defects involving CD119, CD212, STAT1 and IL12 leading to an increased susceptibility to mycobacterial disease.
Test code(s): MSMD
MONTREAL-SJH
Two tests can be ordered: 1 - IL-12/gIFN cytokines secretion (ELISA). 2 - Measures of phosphorylation/dephosphorylation of STAT1 in response to gIFN by flow cytometry.
Test code(s): Étude functionnelle and indicate yourself
NJH-ADL
Phenotypic analysis of IFNγR1 and IL-12 (beta chain) receptors.
Test code(s): IFNGR, IL12R

SCID Screening (IL2RG and JAK3)

CALGARY-CLS
Functional assay in which peripheral blood T cells are stimulated with IL-6 to induce phosphorylation of STAT3 or alternatively, stimulation with IL-2 to induce phosphorylation of STAT5.
Test code(s): PSTAT3 or PSTAT5
CCHMC-DIL
Analyzes phosphorylation of STAT5 in peripheral blood lymphocytes following stimulation of peripheral blood mononuclear cells with IL-2.
Test code(s): pSTAT5
MONTREAL-SJH
Measures phosphorylation/dephosphorylation of STAT3 (IL10 and IL6-induced) and STAT5 (IL2, IL3, IL15, and GMCSF-induced) by flow cytometry.
Test code(s): Étude functionnelle and indicate yourself

TH17 Assay

CALGARY-CLS
Measures % of Th17 cells in the CD3+4+ subset following stimulation with PMA/Ionomycin.
Test code(s): TH17
CCHMC-DIL
Quantifies CD4+ CCR6+ T cells in comparison to an age-based range, and measures IL-17 production following stimulation with Phorbol 12-Myristate 13 Acetate (PMA) and Ionomycin which allows quantitation of TH17 cells.
Test code(s): Th-17 Enumeration
MCW-CIRL
THIL17 Panel Includes: CD3, CD4, CD8, CD19, CD16, CD56, CD14, CD45, IFN-γ, IL-17 Assay measures T cell-specific IFN-γ and IL-17 production by PMA/Ionomycin stimulated PBMCs. Deficient expression is associated with hyper IgE syndrome (HIES)/Job’s Syndrome and also severe eczema.
Test code(s): THIL17
MONTREAL-SJH
Measures IL-17 production following stimulation with Phorbol 12-Myristate 13 Acetate (PMA) and Ionomycin in CD4 T cells.
Test code(s): Étude functionnelle and indicate yourself
NJH-ADL
Offers % of TH1 (IFNg) and TH17 (IL-17) CD4 T cells in PBMC following PMA/Ionomycin stimulation.
Test code(s): TH17C

Toll-like Receptor Function (and Functional Screen for NEMO Deficiency)

ARUP
Toll-Like Receptor Function. Results for TNF alpha, IL-1 beta, IL-6, and CXCL10 are reported as pg/mL. Method: Cell Culture/Quantitative Multiplex Bead Assay.
Test code(s): 0051589
MCW-CIRL
Assay tests TLR4 function by assessing the ability of monocytes to produce TNF-α in response to LPS and MDP (to test XIAP function) stimulation.
Test code(s): TLREC
Assay tests TLR4 function by assessing the ability of monocytes to produce TNF-α in response to LPS and MDP (to test XIAP function) stimulation. Defective response can be seen in IRAK4/MyD88 deficiency and XIAP deficiency.
Test code(s): TLREC/XIAP
MONTREAL-SJH
TLR 2-4 activation: CD62L shedding assay (only local samples for technical reasons) and IL-6 and TNF secretion (ELISA).
Test code(s): TLR2-4
TLR 3 activation in NK cells (CD69 and CD25 expression) by flow cytometry.
Test code(s): TLR3
VIRACOR
Whole blood stimulation with multiple ligands, Lipoteichoic Acid (TLR2), Zymosan (TLR2/6), LPS (TLR4), Flagellin (TLR5), and Bacterial DNA (TLR9) followed by TNF-alpha analysis.
Test code(s): 403091
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