Small and large intestinal diseases concerning for enteropathy or inflammatory bowel disease sometimes can have atypical clinical/histologic presentation and may not respond to conventional treatment. In these instances, the disease may be secondary to inherited primary immune dysfunction or genetic alterations leading to a defect in transport, metabolism, polarity, and function of the mucosal epithelial and endocrine cells. The panel tests for a heterogeneous group of genes related to atypical enteropathy/inflammatory bowel disease such as XIAP deficiency, IPEX syndrome, and ICOS deficiency, among others. This panel includes sequence and deletion/duplication analysis of all the listed genes.

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
1135
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA