Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies
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
Not provided.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103741-5 - Dysregulation auto multi Spec
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 99622-3 - Patient resource info
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in the original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogeneic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | Ambient |