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

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

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

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.

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.

• Informed Consent for Genetic Testing
• Primary Immunodeficiencies Patient Information

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