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Test Code BCELL B-Cell and Antibody Deficiency Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Combined Immunodeficiency, Severe Combined Immunodeficiency, and B-Cell/Antibody Deficiency Patient Information

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency

 

Establishing a diagnosis of a primary B-cell disorder or humoral immunodeficiency, allowing for appropriate management and surveillance for disease features based on the gene and/or variant involved

 

Identifying variants within genes known to be associated with primary B-cell disorders or humoral immunodeficiencies, allowing for predictive testing of at-risk family members

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)/Quantitative Real-Time Polymerase Chain Reaction (qPCR) and Sanger Sequencing as needed

Reporting Name

Bcell/Antibody Deficiency GenePanel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL; Skin biopsy or cultured fibroblasts: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424

2. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-1507. doi:10.1007/s10875-022-01289-3

3. Smith T, Cunningham-Rundles C. Primary B-cell immunodeficiencies. Hum Immunol. 2019;80(6):351-362. doi:10.1016/j.humimm.2018.10.015

4. Peng XP, Caballero-Oteyza A, Grimbacher B. Common variable immunodeficiency: more pathways than roads to Rome. Annu Rev Pathol. 2023;18:283-310. doi:10.1146/annurev-pathmechdis-031521-024229

5. Wang LA, Abbott JK. "Common variable immunodeficiency: Challenges for diagnosis". J Immunol Methods. 2022;509:113342. doi:10.1016/j.jim.2022.113342

6. Ramirez NJ, Posadas-Cantera S, Caballero-Oteyza A, Camacho-Ordonez N, Grimbacher B. There is no gene for CVID - novel monogenetic causes for primary antibody deficiency. Curr Opin Immunol. 2021;72:176-185. doi:10.1016/j.coi.2021.05.010

7. Cardenas-Morales M, Hernandez-Trujillo VP. Agammaglobulinemia: from X-linked to autosomal forms of disease. Clin Rev Allergy Immunol. 2022;63(1):22-35. doi:10.1007/s12016-021-08870-5

8. Jhamnani RD, Nunes-Santos CJ, Bergerson J, Rosenzweig SD. Class-switch recombination (CSR)/dyper-IgM (HIGM) syndromes and phosphoinositide 3-kinase (PI3K) defects. Front Immunol. 2018;9:2172. doi:10.3389/fimmu.2018.02172

9. de la Morena MT. Clinical phenotypes of hyper-IgM syndromes. J Allergy Clin Immunol Pract. 2016;4(6):1023-1036. doi:10.1016/j.jaip.2016.09.013

10. Yazdani R, Fekrvand S, Shahkarami S, et al. The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. Clin Immunol. 2019;198:19-30. doi:10.1016/j.clim.2018.11.007

11. Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508-1520. doi:10.1007/s10875-022-01352-z

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81443

88233-Tissue culture, skin, solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BCELL Bcell/Antibody Deficiency GenePanel 97565-6

 

Result ID Test Result Name Result LOINC Value
620107 Test Description 62364-5
620108 Specimen 31208-2
620109 Source 31208-2
620110 Result Summary 50397-9
620111 Result 82939-0
620112 Interpretation 69047-9
620113 Additional Results 82939-0
620114 Resources 99622-3
620115 Additional Information 48767-8
620116 Method 85069-3
620117 Genes Analyzed 82939-0
620118 Disclaimer 62364-5
620119 Released By 18771-6