Invitae Agammaglobulinemia Panel
Use
The Invitae Agammaglobulinemia Panel analyzes genes associated with agammaglobulinemia or hypogammaglobulinemia, conditions defined by recurrent bacterial infections at an early age, small or absent tonsils and lymph nodes, and very low levels of immunoglobulins and B cells in serum. This broad panel facilitates the efficient evaluation of many potentially relevant genes for agammaglobulinemia and hypogammaglobulinemia, which are antibody deficiencies caused by defects in B-lymphocyte development.
Special Instructions
Invitae is a CAP-accredited and CLIA-certified laboratory performing full-gene sequencing and deletion/duplication analysis using NGS technology. The panel covers clinically important regions of each gene, including coding exons and nearby intronic sequences, plus select non-coding variants. Please consult the test definition for specifics on coverage or exclusions.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, indels 15bp but <1 exon) may have reduced sensitivity. Single-exon copy number events may not be analyzed due to sequence properties or data quality. Certain structural rearrangements and complex sequence variants may not be detected. Promoter, non-coding exons, and other non-coding regions are not covered unless specified. DNA from circulating hematolymphoid neoplasms or recent transfusions may not represent the patient's constitutional genome.
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)