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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

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.

Clinical Reference

1. Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6):986-1001

2. Gamez-Diaz L, August D, Stepensky P, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol. 2016;137(1):223-230

3. Habibi S, Zaki-Dizaji M, Rafiemanesh H, et al. Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review. J Allergy Clin Immunol Pract. 2019;7(7):2379-86.e5

4. Serwas NK, Kansu A, Santos-Valente E, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis. 2015;21(1):40-47

5. Revel-Vilk S, Fischer U, Keller B, et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. Clin Immunol. 2015;159(1):84-92

6. Kiykim A, Ogulur I, Dursun E, et al. Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency. J Allergy Clin Immunol Pract. 2019;7(8):2790-2800.e15

7. Tesch VK, Abolhassani H, Shadur B, et al. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2020;145(5):1452-1463

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