Mutations of the FoxP3 gene have been described in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX). This assay uses flow cytometry to determine the proportion and intensity of intracellular FoxP3 protein expression in the subset of CD4+ T cells that are CD25 bright and CD127 negative. The PCH101 antibody reacts with the amino terminus of human foxp3 protein.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This flow cytometry assay is intended to be used as a screening test. Screening tests are neither 100 percent sensitive nor specific, and a normal result should not preclude molecular sequencing if a patient’s clinical presentation suggests that the probability of a diagnosis is high.
5 - 7 days
Collect specimen in lavendar top tube and send intact whold blood specimen at room temperature. Include a copy of the patient's concurrently drawn CBC and Differential result. Draw Monday-Thursday only
Draw Monday-Thursday only. The label states between 12-4pm for the collection time. That is so it can be delivered to Specimen Processing and still get shipped out that day. Please ask sendouts before canceling the specimen if it can still be shipped.
Test sent to Cincinnati Children’s Hospital.