Invitae Hyper IgE Syndrome Panel
Use
The Invitae Hyper IgE Syndrome Panel analyzes genes that are associated with Hyper IgE syndromes. These conditions are characterized by symptoms such as newborn rash, eczema, boils, recurrent viral and fungal infections, pneumatoceles, elevated serum IgE, and eosinophilia. The panel allows for efficient evaluation by targeting many potentially relevant genes based on a single clinical indication.
Special Instructions
This test is customizable by selecting or removing specific genes from the panel. Invitae performs full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS), covering clinically important regions of each gene.
Limitations
The assay may not detect structural rearrangements or variants embedded in sequence with complex architecture. It may not be possible to resolve certain details about variants such as mosaicism or phasing in some cases. Sequence changes in promoter, non-coding exons, and other non-coding regions are generally not covered unless explicitly stated. Clinical sensitivity is dependent on the genetic condition.
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)