Invitae Complement Deficiency Disorders Panel
Use
The Invitae Complement Deficiency Disorders Panel analyzes genes associated with complement disorders, which are characterized by increased risk for certain infections, autoimmune diseases, atypical hemolytic uremic syndrome, or recurrent episodes of angioedema. This broad panel allows for efficient evaluation of many potentially relevant genes based on a single clinical indication, despite the genetic heterogeneity of complement deficiency disorders.
Special Instructions
Contact client services with any questions about the test or limitations in analysis of these genes, which will be listed on the report. The test is customizable, allowing genes to be removed from the panel.
Limitations
The assay may not detect structural rearrangements, variants embedded in complex sequence architecture, or single-exon copy number events in rare cases. Sequence changes in non-coding regions are generally not covered unless explicitly stated. Variants with mosaicism, phasing, or mapping ambiguity may not be fully resolved. Single nucleotide variants and small indels are highly sensitive, though larger insertions/deletions may have reduced sensitivity. This reflects analysis of extracted genomic DNA; it's possible the DNA might not represent the patient's constitutional genome in cases of hematolymphoid neoplasm, bone marrow transplant, or recent blood transfusion.
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)