Invitae Inborn Errors of Immunity and Cytopenias Panel
Use
The Invitae Inborn Errors of Immunity and Cytopenias Panel analyzes genes associated with inherited disorders of the immune system, including inherited causes of cytopenia such as bone marrow failure and hereditary lymphoma. It provides broad testing for inborn errors of immunity, allowing for efficient evaluation of many potentially relevant genes based on a single clinical indication. This panel is suitable for patients with clinical features suggestive of broad primary immunodeficiencies or cytopenias, offering insights into causes of disease and potential management strategies.
Special Instructions
This test is available through a sponsored, no-charge testing program in addition to insurance and patient-pay billing options. It can be customized by removing genes from the panel if needed. Preferred specimen is whole blood collected in a purple-top EDTA tube, and alternative specimens such as saliva, buccal swab, and genomic DNA are accepted.
Limitations
The test uses next-generation sequencing (NGS) covering clinically important regions, including coding exons and adjacent intronic sequence. The assay may not detect some structural variants, such as large deletions or rearrangements. Variants embedded in complex sequences or certain types of genomic rearrangements may not be reliably detected. Limitations are specified in the report and may include not fully resolving variant details, such as mosaicism.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)