Diagnostic Center for Heritable Immunodeficiencies
Test Catalog and Requisitions

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:

Search By Disorder

Autoimmune Lymphoproliferative Syndrome (ALPS)

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

Lymphoproliferative Disorders (Including EBV-Related)

Severe Combined Immunodeficiencies (SCID)

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

Severe Congenital Neutropenia (SCN)

Wiskott Aldrich Syndrome (WAS)

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

X-Linked Hyper IgM Syndrome (HIGM1)

CD40LG gene sequencing analysis | Download test requisition
CD40L protein expression: More information | Download test requisition

X-Linked Lymphoproliferative Disease (XLP)

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

Bone Marrow Failure Syndromes

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

Chromosome Breakage Disorders

Dyskeratosis Congenita and Telomere Disorders

Familial Hemophagocytic Lymphohistiocytosis (HLH)

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

Fanconi Anemia

Hyper IgE Syndrome (HIES)

Th17 Enumeration: More Information | Download test requisition
DOCK8 – available with our custom gene sequencing
STAT3 - DOCK8 – available with our custom gene sequencing

Inherited Neutropenia Syndromes

IPEX Syndrome

FOXP3 gene sequencing analysis | Download test requisition
FOXP3 protein expression: More information | Download test requisition

Search Alphabetically

List of All Tests

D

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

G

H

I

J

JAK3 gene sequencing | Download test requisition

K

KRAS | Autoimmune Lymphoproliferative Syndrome Panel | Download test requisition

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

ORAI1 gene sequencing | Download test requisition

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

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

U

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

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
ZAP70 gene sequencing | 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):

Molecular Genetics Laboratory

Diagnostic Immunology Laboratory

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:

Familial hemophagocytic lymphohistiocytosis (HLH)

Autoimmune lymphoproliferative syndrome (ALPS)

Fanconi anemia

DIL Customized Volume by ALC

To help calculate the volume of blood to draw, download this chart (.pdf).

Clinical Laboratory Index

View all tests offered by Cincinnati Children’s.

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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

> “Three Things I’d Like Every Parent to Know about HLH”

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