Complement Deficiencies Panel
Use
This test is intended for individuals with relevant clinical features or a suspected diagnosis of complement deficiencies, as well as those presenting with increased susceptibility to pyogenic infection or abnormal CH50 and/or AH50 assay results. It is also recommended for individuals with a family history of a complement deficiency. This test helps in identifying genetic defects associated with complement deficiencies, which can provide crucial information for diagnosis, management, and treatment options.
Special Instructions
Specimen collection options and patient preparation requirements are detailed on the PreventionGenetics order form. Always refer to the latest clinical guidelines and consult with a healthcare provider for case-specific recommendations. Ensure proper labeling and inclusion of necessary clinical information to facilitate accurate testing and interpretation.
Limitations
The test may not detect all genetic variants associated with complement deficiencies or those outside of the 26 tested genes. False positives or negatives might occur due to limitations in detection methodologies or genetic heterogeneity. Variants of unknown significance may require further research and clinical correlation. Not all detected variants will have an established correlation with disease features, and additional testing might be necessary.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided