Clinical conditions resulting from phagocyte defects can result from low numbers or impaired function of innate immune cells such as neutrophils, monocytes, macrophages, and dendritic cells. This category includes genes involved in cell development processes, such as proliferation and differentiation, and involved in cell function and motility processes, such as granule production and chemotaxis.
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 panel is indicated when phagocytic defects are suspected due to a level reduction of neutrophils, monocytes, macrophages, and dendritic cells or defects in their function.
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
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Turnaround time (TAT): 25 days
Ref. S-201907069
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.
