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Diagnostic Center for Heritable Immunodeficiencies

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Laboratory Tests Offered

Download the Molecular Genetics Lab test requisition form

Download the Diagnostic Immunology Lab test requisition form

By Assay By Disorder By Laboratory
ALPS Panel Autoimmune Lymphoproliferative Syndrome (ALPS) Molecular Genetics Laboratory
Antigen Stimulation      FAS (TNFRSF6) gene sequencing analysis CASP10 gene sequencing analysis
B Cell Panel      ALPS Panel CD40L gene sequencing analysis
BAFF plasma levels      FASLG gene sequencing analysis  ELA2 gene sequencing analysis
CASP10 gene sequencing analysis      CASP10 gene sequencing analysis 

FAS gene sequencing analysis  

CD40L (CD154)   FASLG gene sequencing analysis
CD40L gene sequencing analysis Familial Hemophagocytic Lymphohistiocytosis (HLH) FOXP3 gene sequencing analysis
CD45RA / CD45RO      Perforin 1 (PRF1) gene sequencing analysis HAX1 gene sequencing analysis
CD59/FLAER (PNH Screen)      MUNC13-4 gene sequencing analysis IL2RG gene sequencing analysis
CD64 (Leuko64)      STX11 gene sequencing analysis MUNC13-4 gene sequencing analysis
CD107a Mobilazation      RAB27A gene sequencing analysis  PRF1 gene sequencing analysis
CD132/CD127      Perforin/Granzyme B protein expression RAB27A gene sequencing analysis
CTL Function      NK Function SH2D1A gene sequencing analysis
Cytokines, Intracellular      Soluble IL-2R STX11 gene sequencing analysis
Cytokines, Plasma      CD107a Mobilization TNFRSF6 gene sequencing analysis
ECP (Eosinophil Cationic Protein) WAS gene sequencing analysis
EDN (Eosinophil-Derived Neurotoxin) IPEX Syndrome XIAP (BIRC4) gene sequencing analysis
ELA2 gene sequencing analysis      FOXP3 gene sequencing analysis
Eotaxin-3      Foxp3 protein expression Diagnostic Immunology Laboratory
FAS gene sequencing analysis ALPS Panel
FASLG gene sequencing analysis Severe Congenital Neutropenia (SCN) Antigen Stimulation
FOXP3 gene sequencing analysis      ELA-2 (SCN1) B Cell Panel
Foxp3 protein expression      HAX1 (SCN3) BAFF plasma levels
HAX1 gene sequencing analysis      WAS (X-linked SCN) CD40L (CD154)
IL2RG gene sequencing analysis   CD45RA / CD45RO
Lymphocyte Activation Markers Wiskott Aldrich Syndrome (WAS) CD59/FLAER (PNH Screen)
Lymphocyte Subsets      WAS gene sequencing analysis CD64 (Leuko64)
Mitogen Stimulation      WAS protein expression CD107a Mobilazation
MUNC13-4 gene sequencing analysis   CD132/CD127
Neutrophil Adhesion Markers X-linked Hyper IgM Syndrome (XHM) CTL Function
Neutrophil Chemotaxis      CD40L gene sequencing analysis Cytokines, Intracellular
Neutrophil Oxidative Burst      CD40L protein expression Cytokines, Plasma
Neutrophil Phagocytosis & Killing   ECP (Eosinophil Cationic Protein)
NK Function X-linked Lymphoproliferative Disease (XLP) EDN (Eosinophil-Derived Neurotoxin)
Perforin/Granzyme B Protein Expression      SH2D1A gene sequencing analysis Eotaxin-3
PRF1 gene sequencing analysis      BIRC4 (XIAP) gene sequencing analysis Foxp3 protein expression
PHN Screen (CD59/FLAER)      XIAP (XLP2) protein expression  Lymphocyte Activation Markers
RAB27A gene sequencing analysis      SAP (XLP1) protein expression Lymphocyte Subsets
SAP (XLP1) protein expression Mitogen Stimulation
SH2D1A gene sequencing analysis X-linked Severe Combined Immunodeficiency (XSCID) Neutrophil Adhesion Markers
Soluble CD163      IL2RG gene sequencing analysis Neutrophil Chemotaxis
Soluble IL-2R      CD132/CD127 Neutrophil Oxidative Burst
STX11 gene sequencing analysis   Neutrophil Phagocytosis & Killing
TCR alpha/beta gamma/delta   NK Function
TCR Vbeta Repertoire   Perforin/Granzyme B Protein Expression
TNFRSF6 gene sequencing analysis   PHN Screen (CD59/FLAER)
WAS gene sequencing analysis   SAP (XLP1) protein expression
WAS protein expression   Soluble CD163
XIAP (BIRC4) gene sequencing analysis   Soluble IL-2R
XIAP (XLP2) protein expression    TCR alpha/beta gamma/delta
    TCR Vbeta Repertoire
    WAS protein expression
    XIAP (XLP2) protein expression 

Contact the Diagnostic Center for Heritable Immunodeficiencies