Defects in innate and intrinsic immunity are produced by gene alterations controlling the development, structure, or function of innate immune-related components and cells. Innate immunity is the first line of defense against pathogens, and its alteration results in a varied group of clinical conditions characterized predominantly by increased susceptibility to microbes.
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.
Susceptibility to microorganisms without apparent alterations in cellular and humoral immunity may be caused by defects in the genes that encode interferons, Toll-like receptors, NOD-like receptors, and genes involved in the Th1 and Th17 signaling pathways, among others innate immune signaling pathways. Given a suspicion of this type, the exploration of genes related to the innate immune response would be indicated.
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-202110265
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.
