PGmax™ - Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of an inborn error of immunity or primary immunodeficiency. It is especially relevant for those having a family history of unknown etiology immunodeficiency, as well as for infants exhibiting abnormal T cells identified via a positive newborn screen result or showing signs of recurrent, severe infections. The panel includes 651 genes associated with these conditions.
Special Instructions
Users have an option for Exome-wide CNV analysis which is included in the test. STAT testing available, with a specified turnaround time.
Limitations
The test is aimed at detecting variations in a defined list of 651 genes associated with primary immunodeficiency. However, there may be genetic alterations outside of this panel or within non-coding regions that could contribute to the disease phenotype. Interpretation of sequence and CNV data requires comprehensive clinical information and may not identify all potential genetic causes of immunodeficiency.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Collected sample must be properly labeled and shipped according to guidelines.
Storage Instructions
Store at room temperature or refrigerated as appropriate before shipping.
Causes for Rejection
Improper labeling or insufficient volume.