Combined Immunodeficiencies with Syndromic Features Panel
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of combined immunodeficiencies with syndromic features, as well as individuals with a family history of syndromic immunodeficiency. The panel targets 67 genes associated with combined immunodeficiencies, aiding in the diagnosis and management of these conditions.
Special Instructions
STAT testing option is available, which provides faster results with an added surcharge. It is highly encouraged to include detailed clinical notes and a completed clinical features checklist to enhance variant interpretation. This test is developed by PreventionGenetics following CAP and CLIA regulations.
Limitations
The test is limited by its reliance on current knowledge of gene-disease associations within the covered genes. Despite comprehensive sequencing, some alterations may not be detected due to limitations in the technology or bioinformatics pipeline. Variants of uncertain significance will be reported, and the test does not detect all genetic disorders.
New York Approved
Methodology
NGS (Targeted)
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