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Test Code LRBA Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Test Down Notes

LRBA is temporarily test down due to reagent issues.


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.

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.

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

Day(s) Performed

Monday through Friday

Report Available

2 to 4 days