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GTR Home > Tests > Bcell/Antibody Deficiency GenePanel


Test order codeHelp: BCELL

Test name


Bcell/Antibody Deficiency GenePanel (BCELL)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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Click Indication tab for more information.

How to order


Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood


Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000
  • Other

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • Clinical Phenotypes of Hyper-IgM Syndromes. - PubMed ID: 27836054
  • Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects. - PubMed ID: 30319630
  • Primary B-cell immunodeficiencies. - PubMed ID: 30359632
  • The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. - PubMed ID: 30439505
  • There is no gene for CVID - novel monogenetic causes for primary antibody deficiency. - PubMed ID: 34153571
  • Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. - PubMed ID: 34241796
  • Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. - PubMed ID: 35748970
  • "Common variable immunodeficiency: Challenges for diagnosis". - PubMed ID: 36027932
  • The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. - PubMed ID: 36198931
  • Common Variable Immunodeficiency: More Pathways than Roads to Rome. - PubMed ID: 36266261

Clinical validity


Not provided

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