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

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of inflammatory bowel disease (IBD), enteropathy, hepatic primary immunodeficiency (PID), or intestinal manifestation associated with immunodeficiency

 

Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants within genes known to be associated with IBD, enteropathy, hepatic PID, or related disorders allowing for predictive testing of at-risk family members

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

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.

Highlights

This test uses next-generation sequencing to test for variants in the FOXP3, IL10, IL10RA, IL10RB, IL21, IL21R, IL2RA (CD25), ITCH, LRBA, NOD2, STAT3, STAT5B, TTC37, TTC7A, and XIAP (BIRC4) genes.

 

This test uses Sanger sequencing to test for variants in STAT5B Exons 6-8.

 

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

BIRC4
Blau syndrome
CD25
FOXP3
Growth hormone insensitivity with immunodeficiency
IL10
IL10RA
IL10RB
IL21
IL21R
IL2RA
Immunodeficiency with multiple intestinal atresias (TTC7A deficiency)
Inflammatory bowel disease
IPEX-like syndromes
ITCH deficiency
ITCH
LRBA
LRBA deficiency (LATAIE)
NOD2
STAT3
STAT3 gain-of-function
STAT5B
Trichohepatoenteric syndrome 1
TTC37
TTC7A
X-linked immunodysregulation, polyendocrinopathy, and enteropathy (IPEX)
X-linked lymphoproliferative syndrome, colitis, IBD, hepatitis (XIAP)
Primary Immunodeficiency