Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel
Use
The Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel analyzes genes associated with SCID and CID, conditions marked by dysfunction of T-lymphocytes and B-lymphocytes, and sometimes natural killer cells. SCID often presents with severe, recurrent infections in children, whereas CID is generally less severe. This test allows for an efficient evaluation of potentially relevant genes through broad panel testing and can guide the diagnosis and management of patients with these immunodeficiencies.
Special Instructions
Asymptomatic infants with abnormal SCID newborn screening results or individuals with a history of severe early-onset infections may find this test relevant. The panel covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. Contact client services for additional queries.
Limitations
The assay does not cover sequence changes in promoter regions, non-coding exons, or other non-coding areas unless explicitly stated. Certain variants such as structural rearrangements or complex sequences may not be detected. Variants in samples from patients with conditions like recent blood transfusion may not represent the true genomic makeup. Detailed limitations are available upon request and highlighted in the test report.
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)