Autoimmune enteropathy is a rare, early-onset disorder characterized by the presence of circulating autoantibodies mainly against intestinal epithelial cells. It is caused by a dysfunction of T cells that can lead to the production of autoantibodies, producing atrophy of the intestinal villi of non-celiac origin and causing damage to the intestinal wall.
~1/100.000
Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.
This set of pathologies highly overlaps with systemic autoimmune diseases, so it is important to evaluate other extra-intestinal manifestations.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 25 days
Ref. S-202110279
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
