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

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.

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.

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
• Blood Spot Collection Card-Spanish Instructions
• Primary Immunodeficiencies Patient Information
• Blood Spot Collection Card-Chinese Instructions
• Informed Consent for Genetic Testing (Spanish)

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