Invitae Autoinflammatory and Autoimmunity Syndromes Panel
Use
The Invitae Autoinflammatory and Autoimmunity Syndromes Panel analyzes genes associated with autoinflammatory and autoimmune conditions. These include disorders characterized by episodic inflammation due to inappropriate activation of the innate immune response, and autoimmune disorders caused by defects in adaptive immunity leading to loss of self-tolerance. The panel aids in diagnosing conditions such as familial cold autoinflammatory syndromes, inflammatory bowel disease, and Familial Mediterranean Fever among others.
Special Instructions
The test is customizable, allowing users to select or remove genes from the panel. Preferred specimens include 3mL whole blood in a purple-top EDTA tube, but saliva, buccal swab, and gDNA are also accepted. Contact client services for specific inquiries.
Limitations
The test achieves >99% analytical sensitivity and specificity for various genetic variations but may have reduced sensitivity for structural rearrangements or variants in complex regions. Some types of variants, such as those in promoter regions or complex sequences, might not be detected, and limitations are provided in the test report. External factors like recent blood transfusion may affect the accuracy of results.
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)