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HelpOrder Code LRBA Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Test Down Notes
Effective April 28, 2024: This test is temporarily unavailable due to reagent supply. The downtime is expected to be >30 days. An alternate test option is not available. See test notification here.
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.
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.
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.
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 |
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | OK |
Reference Values
The appropriate reference values will be provided on the report.
Method Description
The lipopolysaccharide-responsive beige-like anchor (LRBA) protein expression assay is performed on EDTA whole blood. Samples are fixed, permeabilized and stained with antibodies specific for CD45, CD14, CD19, CD3, and CD56 along with either the LRBA antibody (unconjugated) or isotype control (unconjugated). A secondary reporter antibody is added to allow the assessment of LRBA and isotype control expression. Samples are then analyzed on a flow cytometer. LRBA expression is evaluated on the following populations: T-cells: (CD45+CD14negCD3+) and B-cells: (CD45+CD14negCD3negCD19+).(Unpublished Mayo method)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
86356 x 2
Day(s) Performed
Monday through Friday