Invitae Hyper IgM Syndrome Panel
Use
The Invitae Hyper IgM Syndrome Panel analyzes genes associated with hyper IgM. This panel helps confirm a diagnosis of hyper IgM syndrome in individuals with recurrent respiratory or opportunistic infections and normal to increased levels of immunoglobulin M (IgM). Hyper IgM syndrome is a primary immunodeficiency characterized by defective class-switch recombination and somatic hypermutation. Affected individuals often present with respiratory and opportunistic infections, pneumonia, and growth failure due to recurrent diarrhea. Other symptoms include neutropenia, anemia, thrombocytopenia, neurological complications, liver disease, and an increased risk of certain malignancies.
Special Instructions
The panel analyzes clinically important regions of each gene, including coding exons and adjacent intronic sequence. The analysis covers select non-coding variants, but variants outside these regions are not analyzed. Any limitations are listed on the report.
Limitations
The assay achieves >99% analytical sensitivity and specificity for SNVs, insertions, and deletions <15bp, and exon-level deletions and duplications. Sensitivity might be reduced for larger insertions/deletions smaller than a full exon. Structural rearrangements or variants in complex architectures may not be detected. Situations like bone marrow transplant or recent blood transfusion may affect the analyzed DNA.
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)