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Test 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, 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

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

NY State Approved

Yes

Day(s) Performed

Monday through Friday

Report Available

2 to 4 days