Test Id : LRBA
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.
Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Useful For
Suggests clinical disorders or settings where the test may be helpful
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
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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 peripheral blood.
It can be used as a screening step prior to genetic testing for LRBA; to confirm the finding of an established disease-causing alteration in LRBA at the protein level; and to examine the effect of reported genetic variants of undetermined significance 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; inflammatory bowel disease; and autoimmune lymphoproliferative syndrome.
Method Name
A short description of the method used to perform the test
Flow Cytometry
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
LPS-Responsive Beige-Like Anchor Protein
LRBA
LRBA Deficiency
Specimen Type
Describes the specimen type validated for testing
Whole Blood EDTA
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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | OK |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Ambient | 48 hours | PURPLE OR PINK TOP/EDTA |
Useful For
Suggests clinical disorders or settings where the test may be helpful
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
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
The appropriate reference values will be provided on the report.
Interpretation
Provides information to assist in interpretation of the test results
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.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
No significant cautionary statements
Clinical Reference
Recommendations for in-depth reading of a clinical nature
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
Method Description
Describes how the test is performed and provides a method-specific reference
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)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
86356 x 2
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| LRBA | LRBA Deficiency, B | In Process |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 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 |