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Test 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, B

Specimen Type

Whole Blood EDTA

Specimen 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

Clinical Information

Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a rare autosomal recessive primary immunodeficiency disease (also known as inborn errors of immunity) caused by homozygous or compound heterozygous loss-of-function variants in the LRBA gene. It has a wide spectrum of clinical manifestations, including immune dysregulation and autoimmunity, inflammatory bowel disease, early-onset hypogammaglobulinemia, recurrent infections and organomegaly.

Reference Values

The appropriate reference values will be provided on the report.

Specimen Retention Time

4 days

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

Day(s) Performed

Monday through Friday

Report Available

2 to 4 days