Test Catalog

Test ID: IBDGP    
Inflammatory Bowel Disease Primary Immunodeficiency (PID) Panel

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying variants in genes known to be associated with monogenic inflammatory bowel disease (IBD) or IBD-like conditions. Identification may allow for development of a specific treatment and surveillance plan for these patients based on the molecular alteration identified, and predictive testing of at-risk family members.

 

Diagnosis of monogenic IBD or IBD-like conditions among patients with early onset or very-early onset IBD, or who are refractory to conventional therapy.

 

Ascertaining carrier status of family members of individuals diagnosed with early onset IBD for genetic counseling purposes. If a family member has already tested positive for a variant in a gene on this panel, order known variant analysis (KVAR). See Advisory Information section (Specimen tab) for more details.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test uses next-generation sequencing to test for variants in the ADA, ADAM17, AICDA, BTK, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C (Artemis), DKC1, DOCK8, FOXP3, G6PC3, ICOS, IKBKG, IL10, IL10RA, IL10RB, IL21, IL21R, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MEFV, MVK, NCF2, NCF4, NLRC4, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2, RTEL1, SH2D1A, SKIV2L, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TNFAIP3, TTC37, TTC7A, WAS, WIPF1, XIAP and ZAP70 genes.

Highlights

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

IBD PID Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

FOXP3
IL10
IL10RA
IL10RB
IL21
IL21R
IL2RA
Immunodeficiency with multiple intestinal atresias (TTC7A deficiency)
Inflammatory bowel disease
IPEX-like syndromes
LRBA
STAT3
TTC37
TTC7A
X-linked immunodysregulation, polyendocrinopathy, and enteropathy (IPEX)
X-linked lymphoproliferative syndrome, colitis, IBD, hepatitis (XIAP)
Primary Immunodeficiency
ADA
ADAM17
AICDA
BTK
CD3G
CD40LG
CTLA4
CYBA
CYBB
DCLRE1C
DKC1
DOCK8
G6PC3
ICOS
IKBKG
IL2RG
IBD
ITGB2
LIG4
MEFV
MVK
NCF2
NCF4
NLRC4
PIK3CD
PIK3R1
PLCG2
RAG1
RAG2
RTEL1
SH2D1A
SKIV2L
SLC37A4
STAT1
STIM1
STXBP2
Trichohepatoenteric syndrome
WAS
WIPF1
XIAP
ZAP70