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HelpTest ID IMMAU Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies
Ordering Guidance
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblasts
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Reporting Name
Dysregulation/Autoimmune GenePanelSpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| IMMAU | Dysregulation/Autoimmune GenePanel | 103741-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619859 | Test Description | 62364-5 |
| 619860 | Specimen | 31208-2 |
| 619861 | Source | 31208-2 |
| 619862 | Result Summary | 50397-9 |
| 619863 | Result | 82939-0 |
| 619864 | Interpretation | 69047-9 |
| 619865 | Additional Results | 82939-0 |
| 619866 | Resources | 99622-3 |
| 619867 | Additional Information | 48767-8 |
| 619868 | Method | 85069-3 |
| 619869 | Genes Analyzed | 82939-0 |
| 619870 | Disclaimer | 62364-5 |
| 619871 | Released By | 18771-6 |
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)
3. Inborn Errors of Immunity, Autoimmunity, and Autoinflammatory Disease Patient Information
Useful For
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity
Establishing a diagnosis of an IEI, allowing for appropriate management and surveillance for disease features based on the gene and/or variant involved
Identifying variants within genes known to be associated with immune dysregulation or autoimmunity, allowing for predictive testing of at-risk family members
Day(s) Performed
Varies
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81443
88233-Tissue culture, skin, solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
Specimen Minimum Volume
Blood: 1 mL; Skin biopsy or cultured fibroblasts: See Specimen Required
Reference Values
An interpretive report will be provided.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.