Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Casandra

Casandra Test Code MC71103Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID IMMAUCPT Codes 81443, 88233, 88240

Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Clinical Use

Use

This test is used to provide a comprehensive genetic evaluation for individuals with a personal or family history indicating an inborn error of immunity (IEI) characterized by immune dysregulation or autoimmunity. It aims to establish a diagnosis of IEI, which can aid in the management and surveillance of disease features based on the gene and/or variant involved. Additionally, it identifies variants within genes associated with immune dysregulation or autoimmunity, thereby enabling predictive testing for at-risk family members.

Special Instructions

For skin biopsy or cultured fibroblast specimens, an additional culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An informed consent document is required for New York clients and must be documented on the request form or electronic order.

Limitations

Next-generation sequencing may not detect all genomic variants. False-negative or false-positive results may occur, especially for deletions and duplications due to technical limitations. Regions with high GC content or homology pose difficulties. This test is validated to detect 95% of deletions up to 75bp and insertions up to 47bp. Complex variants, balanced structural rearrangements, and low levels of mosaicism may not be detected. Changes in gene relevance could alter panel composition over time.

Test Details

New York Approved