Suggested Custom Slice — Common Variable Immune Deficiency
Use
This test is indicated for patients with a clinical suspicion of common variable immune deficiency (CVID) who require targeted genomic analysis without comprehensive exome or genome-wide interrogation. Using the Custom Slice approach, the test enables focused sequencing of a provider‑specified gene set (2–150 genes) pertinent to CVID. It aims to yield molecular diagnosis that may guide immunological evaluation and patient management.
Special Instructions
Provider must submit a custom gene list via the GeneDx Custom Slice tool; approval is required prior to sample submission. The test generates exome data but only reports variants in requested genes. Representation of ACMG secondary findings is limited to those genes included in the requested list.
Limitations
Only genes specified by the ordering provider are analyzed; variants in genes outside the list are not reviewed or reported. Secondary findings in ACMG genes are excluded unless specifically requested. The test is limited to the proband — trio or family analysis is not included in this option. Diagnostic yield may be limited by gene list completeness and variant interpretability.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided