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HelpTest Code LRBA Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Test Down Notes
LRBA is temporarily test down due to reagent issues.
Reporting Name
LRBA Deficiency, BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Aiding 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.
Method Name
Flow Cytometry
Ordering Guidance
This flow cytometry test is complementary to genetic testing.
Shipping Instructions
Testing is performed Monday through Friday. Specimens not received by 4 p.m. (CST) on Friday may be cancelled.
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 healthcare professional name and phone number are required.
Specimen Required
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen 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 |
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | OK |
Reference Values
The appropriate reference values will be provided on the report.
Interpretation
The results are reported as the percentage and MFI (mean fluorescence intensity) of lipopolysaccharide-responsive beige-like anchor protein (LRBA) expression in T cells and B cells.
The majority of genetically confirmed cases of LRBA deficiency lead to the absence of LRBA expression. Therefore, the lack of LRBA expression in T and B cells is consistent with LRBA deficiency. In this case, genetic analysis of LRBA to confirm the diagnosis and to identify the underlying variant will be recommended.
In addition, there are reported cases of LRBA deficiency where the protein is expressed but at lower intensity. Therefore, the expression of LRBA at diminished intensity could be due to a disease-causing LRBA variant, which would have to be confirmed or ruled out by genetic and functional analysis.
Day(s) Performed
Monday through Friday
Report Available
2 to 4 daysTest 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 |