Tests Offered
The Diagnostic Center for Heritable Immunodeficiencies performs genetic and and cellular immunology tests for inherited immunodeficiencies and hemophagocytic disorders. We offer two options to help you find the test you're looking for:
Test Catalog and Requisitions
Search By Disorder
- ALPS Panel by flow: More information | Download test requisition
- ALPS Panel by NGS | Download test requisition
- Apoptosis (Fas-mediated): More information | Download test requisition
- FAS (TNFRSF6) gene sequencing analysis | Download test requisition
- FASLG gene sequencing analysis | Download test requisition
- CASP10 gene sequencing analysis | Download test requisition
- CASP8 gene sequencing analysis | Download test requisition
- Interleukin-18 (IL-18): More information | Download test requisition
- Soluble Fas-Ligand (sFasL): More information | Download test requisition
- Severe Combined Immunodeficiency Panel by NGS | Download test requisition
- IL2RG (X-linked SCID) gene sequencing | Download test requisition
- Antigen stimulation: More information | Download test requisition
- CD45RA / CD45RO Revised Panel: More information | Download test requisition
- Mitogen Stimulation: More information | Download test requisition
- pSTAT5: More information | Download test requisition
- MHC Class II: More information | Download test requisition
- Zap-70 (only for SCID): More information | Download test requisition
- WAS gene sequencing analysis | Download test requisition
- WAS protein expression: More information | Download test requisition
- WAS protein transplant monitor: More information | Download test requisition
- Bone Marrow Failure Syndrome Panel by NGS | Download test requisition
- Inherited Neutropenia Panel by NGS | Download test requisition
- CD40LG gene sequencing analysis | Download test requisition
- CD40L protein expression: More information | Download test requisition
- SH2D1A gene sequencing analysis | Download test requisition
- BIRC4 (XIAP) gene sequencing analysis | Download test requisition
- SAP (XLP1) protein expression: More information | Download test requisition
- XIAP (XLP2) protein expression: More information | Download test requisition
- iNKT Immunophenotyping: More information | Download test requisition
- Amegakaryocytic thrombocytopenia (AMEGA or CAMT): Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Bone Marrow Failure: Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Cyclic Neutropenia: ELA2 | Inherited Neutropenia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Diamond Blackfan anemia: Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Dyskeratosis Congenita: Dyskeratosis Congenita Panel | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Fanconi anemia: Fanconi Anemia Panel by NGS | FANCA | FANCC | FANCG | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Kostman disease: HAX1 | Inherited Neutropenia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
- Severe congenital neutropenia: Inherited Neutropenia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS |ELA2 | HAX1 | Test Requisition
- Shwachman Diamond Syndrome: SBDS | Bone Marrow Failure Syndrome Panel by NGS | Inherited Neutropenia Panel by NGS | Test Requisition
- PRF1 gene sequencing | Download test requisition
- MUNC13-4 gene sequencing analysis | Download test requisition
- STX11 gene sequencing analysis | Download test requisition
- RAB27A gene sequencing analysis | Download test requisition
- STXBP2 gene sequence analysis | Download test requisition
- Perforin / Granzyme B protein expression: More information | Download test requisition
- NK Function: More information | Download test requisition
- Soluble IL-2: More information | Download test requisition
- CD107a Mobilization: More information | Download test requisition
- HLH Panel by NGS | Download test requisition
- ITK gene sequence analysis | Download test requisition
- SH2D1A gene sequencing analysis | Download test requisition
- XIAP gene sequencing analysis | Download test requisition
- FANCA gene sequencing | Download test requisition
- FANCC gene sequencing | Download test requisition
- FANCC IVS4+4 A>T mutation screening | Download test requisition
- FANCG gene sequencing | Download test requisition
- Fanconi Anemia Panel by NGS | Download test requisition
- Bone Marrow Failure Syndrome Panel by NGS | Download test requisition
- Chromosome breakage studies
- Complementation group assay
- Th17 Enumeration: More Information | Download test requisition
- DOCK8 – available with our custom gene sequencing
- STAT3 - DOCK8 – available with our custom gene sequencing
- FOXP3 gene sequencing analysis | Download test requisition
- FOXP3 protein expression: More information | Download test requisition
Search Alphabetically
A
- ADA gene sequencing | Download test requisition
- ALPS Panel by flow: More information | Download test requisition
- Autoimmune Lymphoproliferative Syndrome (ALPS) Panel by NGS | Download test requisition
- Antigen Stimulation: More information | Download test requisition
- AP3B1 | Hemophagocytic Lymphohistiocytosis Panel | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Apoptosis (Fas-mediated): More information | Download test requisition
- ARTEMIS gene sequencing | Download test requisition
- ATM gene sequencing | Download test requisition
B
- B Cell Panel: More information | Download test requisition
- BAFF (B-cell activating factor), Plasma Levels: More information | Download test requisition
- BIRC4 gene sequencing | Download test requisition
- BIRC4 (XIAP) | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- BLM gene sequencing | Download test requisition
- BLOC1S6 | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- BRIP1 gene sequencing | Fanconi Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
C
- C16orf57 | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- CASP8 | Autoimmune Lymphoproliferative Syndrome Panel | Download test requisition
- CASP10 gene sequencing | Autoimmune Lymphoproliferative Syndrome Panel | Download test requisition
- CD27 | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- CD3D gene sequencing | Download test requisition
- CD3E gene sequencing | Download test requisition
- CD40LG gene sequencing | Download test requisition
- CD40L (CD154) by flow: More information | Download test requisition
- CD45 gene sequencing | Download test requisition
- CD45RA / RO Revised Panel: More information | Download test requisition
- CD52 Expression: More information | Download test requisition
- CD64 (Leuko64): More information | Download test requisition
- CD107a Mobilization: More information | Download test requisition
- CSF3R | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Custom gene sequencing | Download test requisition
- CTL Function: More information | Download test requisition
- CXCR4 | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Cytokines, CSF: More information | Download test requisition
- Cytokines, Intracellular: More information | Download test requisition
- Cytokines, Plasma: More information | Download test requisition
D
- Deletion / Duplication Analysis | Download test requisition
- DKC1 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- DCLRE1C gene sequencing | Download test requisition
- Diamond Blackfan Anemia Panel by NGS | Download test requisition
- Dyskeratosis Congenita Panel by NGS | Download test requisition
E
- EBV Immortalization: More information | Download test requisition
- ELA2 (ELANE) gene sequencing | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- ELANE | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- ERCC4 (FANCQ) | Fanconi Anemia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
F
- FADD | Autoimmune Lymphoproliferative Syndrome Panel | Download test requisition
- FANCA gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCB gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCC gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCC IVS4+4 A>T mutation screening | Download test requisition
- FANCD1 gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCE gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCF gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCG gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCI gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCJ gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCL gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCM gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCN gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCO gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCP (SLX4) gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FANCQ (ERCC4) gene sequencing | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- FAS gene sequencing | Autoimmune Lymphoproliferative Syndrome Panel | Download test requisition
- FASLG gene sequencing | Autoimmune Lymphoproliferative Syndrome Panel | Download test requisition
- FOXN1 gene sequencing | Download test requisition
- FOXP3 gene sequencing | Download test requisition
- Foxp3 by flow: More information | Download test requisition
G
- G6PC3 | Inherited Neutropenia Panel |Bone Marrow Failure Syndromes Panel by NGS |Download test requisition
- GATA1 | Inherited Neutropenia Panel |Bone Marrow Failure Syndromes Panel by NGS |Download test requisition
- GATA2 | Inherited Neutropenia Panel |Bone Marrow Failure Syndromes Panel by NGS |Download test requisition
- GFI1 | Inherited Neutropenia Panel |Bone Marrow Failure Syndromes Panel by NGS |Download test requisition
H
- HAX1 gene sequencing | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Hemophagocytic Lymphohistiocytosis Panel by NGS | Download test requisition
I
- IL2RG gene sequencing | Download test requisition
- IL7R gene sequencing | Download test requisition
- Inherited Neutropenia Panel by NGS | Download test requisition
- iNKT: More information | Download test requisition
- Interleukin-18 (IL-18): More information | Download test requisition
- ITK gene sequencing | Autoimmune Lymphoproliferative Syndrome Panel | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
J
K
L
- LAMTOR2 (ROBLD3) | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- LIG4 gene sequencing: Chromosome Breakage Disorders Panel | Severe Combined Immunodeficiency Panel | Download test requisition
- Lymphocyte Activation Markers: More information | Download test requisition
- Lymphocyte Subsets (Subpopulation): More information | Download test requisition
- LYST | Hemophagocytic Lymphohistiocytosis Panel | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
M
- MAGT1 gene sequencing analysis | Autoimmune Lymphoproliferative Syndrome Panel | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- MHC Class I & II: More information | Download test requisition
- Mitogen Stimulation: More information | Download test requisition
- MPL gene sequencing | Download test requisition
- MUNC13-4 (UNC13D) gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
N
- NBN gene sequencing | Download test requisition
- Neopterin: More information | Download test requisition
- Neutrophil Adhesion Markers: More information | Download test requisition
- Neutrophil Oxidative Burst: More information | Download test requisition
- NHP2 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- NHEJ1 gene sequencing: Chromosome Breakage Disorders Panel | Severe Combined Immunodeficiency Panel | Download test requisition
- NK Function: More information | Download test requisition
- NOLA2 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- NOLA3 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- NOP10 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- NRAS | Autoimmune Lymphoproliferative Syndrome Panel | Test Requisition
O
P
- PALB2 gene sequencing | Fanconi Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Perforin / Granzyme B: More information | Download test requisition
- PNH Screen (CD59): More information | Download test requisition
- PNP gene sequencing | Download test requisition
- PRF1 gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- pSTAT5: More information | Download test requisition
- PTPRC gene sequencing | Download test requisition
R
- RAB27A gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Inherited Neutropenia Panel | Test Requisition
- RAC2 Inherited Neutropenia Panel |Bone Marrow Failure Syndromes Panel by NGS | Test Requisition
- RAD51C gene sequencing | Fanconi Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RAG1 gene sequencing | Download test requisition
- RAG2 gene sequencing | Download test requisition
- RBM8A | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RMRP gene sequencing | Severe Combined Immunodeficiency Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- ROBLD3 (LAMTOR2) | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPL5 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPL11 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPL15 | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPL26 | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPL35A gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPS7 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPS10 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPS17 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPS19 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPS24 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RPS26 gene sequencing | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- RTEL1 | Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
S
- SAMD9 | Bone Marrow Failure Gene Sequencing Panel | Test Requisition
- SAMD9L | Bone Marrow Failure Gene Sequencing Panel | Test Requisition
- SAP (XLP1): More information | Download test requisition
- SBDS gene sequencing | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- SH2D1A gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- SLC7A7 | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- SLC37A4 | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- SLX4 (FANCP) | Fanconi Anemia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Soluble CD163: More information | Download test requisition
- Soluble Fas-Ligand (sFasL): More information | Download test requisition
- Soluble IL-2R: More information | Download test requisition
- Sorted Engraftment: More information | Download test requisition
- SRP72 | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- STAT5B gene sequencing | Download test requisition
- STIM1 gene sequencing | Download test requisition
- STX11 gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- STXBP2 gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
T
- TAZ | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- TBX1 gene sequencing | Download test requisition
- TCAB1 (WRAP53) gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- TCR a/b g/d: More information | Download test requisition
- TCR V Beta Repertoire: More information | Download test requisition
- TERC gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- TERT gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- Th17 Enumeration: More Information | Download test requisition
- TINF2 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
U
- USB1 (C16orf57)| Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- UNC13D (MUNC13-4) gene sequencing | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
V
- VPS13B | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- VPS45 | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
W
- WAS gene sequencing | Inherited Neutropenia Panel | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- WASP: More information | Download test requisition
- WASP Transplant Monitor: More information | Download test requisition
- WDR79 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- WIPF1 | Inherited Neutropenia Panel | Download test requisition
- WRAP53 gene sequencing | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
- WDR79 | Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndromes Panel by NGS | Download test requisition
X
- XIAP (BIRC4) | Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
- XIAP (XLP2) expression by flow cytometry: More information | Download test requisition
- XIAP (XLP2) gene sequencing| Hemophagocytic Lymphohistiocytosis Panel | Download test requisition
Z
- ZAP-70 (only for SCID): More information | Download test requisition
Test Requisition Forms
When ordering tests, physicians must complete and sign a test requisition and enclose it with the sample. All information must be completed before the sample can be processed. Doctors need not be affiliated with Cincinnati Children's to order tests.
You can download the following test requisitions in portable document format (.pdf):
Custom Gene Sequencing and Deletion/Duplication Analysis
Testing Algorithms
Need help in determining the most efficient sequence of testing for your patients? See our algorithms for:
DIL Customized Volume by ALC
To help calculate the volume of blood to draw, download this chart (.pdf).
Maya’s Story
Maya was diagnosed with hemophagocytic lymphohistiocytosis through the DCHI laboratories and moved to Cincinnati to receive treatment. Maya underwent a life-saving bone marrow transplant at Cincinnati Children’s. Her mother hopes to encourage people to register to be bone marrow donors.
Video: What is HLH?
Mom Shares Family's Journey
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