Bcell/Antibody Deficiency GenePanel
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000607946.1
- Last updated: 2023-07-24
- Test version history
- 607946.1, last updated: 2023-07-24
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Offered by Mayo Clinic Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Bcell/Antibody Deficiency GenePanel (BCELL)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
https://www.mayocliniclabs.com/test-catalog/Overview/620106#Specimen
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NovaSeq 6000
- Other
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
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.