The immune system dysregulation diseases comprise a heterogeneous group of pathologies that can be triggered by defects in the adaptive or innate immune system that reduce its response by dysregulated immune responses, characterized by autoimmunity, recurrent episodes of autoinflammation, dysregulation of lymphocyte homeostasis or hypersensitivity reactions. These disorders can have a genetic etiology.
These types of diseases have a prevalence that varies between 1/5,000 and 1/100,000 for some diseases.
The complexity and symptomatic overlap of these diseases makes genetic testing a helpful test to rule out the genetic cause and make an accurate diagnosis of the disease if a clinically relevant finding is identified.
This is a global panel that includes both autoinflammatory diseases and genetically based autoimmune diseases and highly overlapping pathologies such as hemophagocytic lymphohistiocytosis. At the level of adaptive immunity, phenotypes related to T-cell regulation defects are included.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
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
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202110274
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.
