Invitae Hereditary Angioedema Panel
Use
The Invitae Hereditary Angioedema Panel analyzes genes associated with hereditary angioedema, a condition characterized by recurrent swelling of various tissues. These episodes can be painful and lead to symptoms like vomiting and diarrhea, with the potential for life-threatening airway obstruction due to respiratory tract edema. It is essential for diagnosing individuals with unexplained angioedema, especially those with a family history or low complement component 4 (C4) levels.
Special Instructions
This panel is performed at Invitae, a CAP-accredited and CLIA-certified laboratory. It includes full-gene sequencing and deletion/duplication analysis using next-generation sequencing (NGS) technology, ensuring high sensitivity and specificity. Contact client services for more detailed queries regarding the analysis or limitations.
Limitations
While the assay achieves high sensitivity for single nucleotide variants, insertions, and deletions, there may be reduced sensitivity for insertions and deletions larger than 15bp but smaller than a full exon. Single-exon copy number events may also be missed in rare situations. Structural rearrangements like inversions or translocations, as well as variants in complex sequences, may not be detected. The test does not cover non-coding exons, promoter regions, and other non-coding areas unless specified.
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)