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HelpTest ID LRBA Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Ordering Guidance
This flow cytometry test is complementary to genetic testing.
Shipping Instructions
Specimens are required to be received in the laboratory weekdays and by 4 p.m. on Friday. Collect and package specimen as close to shipping time as possible.
It is recommended that specimens arrive within 24 hours of collection.
Samples arriving on the weekend and observed holidays may be canceled.
Necessary Information
Ordering physician name and phone number are required.
Specimen Required
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Useful For
Aids in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency
This test is not useful for identifying a carrier status for LRBA deficiency.
Genetics Test Information
The human lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene is on chromosome 4.
Assessment of 109 patients with LRBA deficiency has shown 93 homozygous and 16 compound heterozygous alterations in the gene.
Alterations in the LRBA gene have been observed throughout the length of the gene and include the following main categories: Nonsense; missense; insertions, deletions, indels, and splice site alterations.
Highlights
The test determines the percentage and intensity of expression of lipopolysaccharide-responsive beige-like anchor (LRBA) protein on T cells and B cells in the peripheral blood.
It can be used as a screening step prior to genetic testing for LRBA; to confirm the finding of an established pathogenic alteration in LRBA at the protein level; and to examine the effect of reported genetic variants of undetermined significance (VUS) on LRBA protein expression.
It can help distinguish LRBA deficiency from conditions with overlapping clinical manifestations, including immune dysregulation and autoimmunity, such as immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)-like syndromes; early onset hypogammaglobulinemia; common variable immune deficiency (CVID); inflammatory bowel disease (IBD); and autoimmune lymphoproliferative syndrome (ALPS).
Method Name
Flow Cytometry
Reporting Name
LRBA Deficiency, BSpecimen Type
Whole Blood EDTASpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Ambient | 48 hours | PURPLE OR PINK TOP/EDTA |
Reference Values
The appropriate reference values will be provided on the report.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
86356 x 2
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LRBA | LRBA Deficiency, B | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608960 | %CD3+LRBA+ | In Process |
| 608964 | MFI CD3+LRBA+ | In Process |
| 608961 | %CD19+LRBA+ | In Process |
| 608965 | MFI CD19+LRBA+ | In Process |
| 608968 | LRBA Interpretation | 69052-9 |