12/14/2022 0 Comments Hyper igm syndrome![]() ![]() ![]() This report reflects the analysis of an extracted genomic DNA sample. Ex Vivo Gene Editing of Human Hematopoietic Stem Cells for the Treatment of X-Linked Hyper IgM Syndrome. ![]() Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. The lower levels of the other antibody types make it difficult to fight infections. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Hyper IgM syndrome is characterized as the body's inability to switch from the production of IgM antibodies to other antibodies such as IgG, IgA or IgE. Symptoms of hyper-IgM syndrome (HIGM) An increased risk of infection, including repeated upper and lower respiratory tract infections. short tandem repeats or segmental duplications), may not be detected. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. Certain types of variants, such as structural rearrangements (e.g. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. #Hyper igm syndrome fullInvitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Contact client services with any questions.īased on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Any limitations in the analysis of these genes will be listed on the report. Any variants that fall outside these regions are not analyzed. In addition, the analysis covers select non-coding variants. Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). ![]()
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