Invitae Phagocytic Disorders Including Neutropenia Panel
Use
The Invitae Phagocytic Disorders Including Neutropenia Panel analyzes genes associated with primary immunodeficiencies that affect phagocyte number and/or function. These conditions increase the risk for recurrent or severe bacterial and fungal infections. The test is useful in diagnosing genetically heterogeneous disorders such as congenital neutropenia, chronic granulomatous disease, leukocyte adhesion deficiency, pulmonary alveolar proteinosis, and WHIM syndrome, among others. Early detection can aid in managing and treating these conditions effectively, reducing the risk of life-threatening infections and associated complications such as leukemia.
Special Instructions
Please refer to the test definition for details regarding covered regions or types of variants. It includes full-gene sequencing and deletion/duplication analysis using NGS technology. Ensure correct specimen type and follow the prescribed method for optimal test results. For further details, contact our client services.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp. Limitations include detection margins for larger insertions and complex rearrangements. Single-exon copy number events may not be analyzed in rare situations due to sequence properties or data quality. Some variants, such as those in promoter and non-coding regions, may not be detectable. Structural rearrangements and variants embedded in sequence with complex structure might be missed. Mosaicism, phasing, or mapping ambiguity might not be completely resolved.
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)