Cellular and Humoral Immunodeficiency Panel
Use
This test is intended for individuals with severe T cell lymphopenia and a lack of adaptive immunity. It is suitable for those with clinically or suspected cellular and humoral immunodeficiency. Newborns with positive SCID screening results from T-cell receptor excision circles (TRECs) testing may also be candidates for this test. The assay can help evaluate genetic causes of immunodeficiency by analyzing a broad range of genes associated with adaptive immune system defects.
Special Instructions
Exome and genome platforms are available, each with specific specimen requirements. For Exome Platform, specimens can include Blood, DNA, Buccal, Saliva, or Tissue. For Genome Platform, specimens are limited to Blood and DNA. Special handling may be required for specific specimen types, and proper labeling is essential.
Limitations
The test is limited by its methodology, primarily relying on NGS with CNV analysis. Detection of variants may be affected by the quality and quantity of DNA, as well as the presence of interfering substances. The platform may not detect all types of genetic variants, such as those in non-coding regions, or structural variants too large for detection by the assay. Interpretation depends heavily on the clinical context provided and may require further confirmation with additional testing.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided