Preferred Label : B-cell primary immunodeficiency multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen;
LOINC status : ACTIVE;
LOINC display name : B-cell primary immunodeficiency multigene analysis Molgen Doc (Bld/Tiss);
LOINC long common name : B-cell primary immunodeficiency multigene analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : B-cell PI multigene Bld/T;
LOINC description : This test includes analysis of multiple genes associated with primary B-cell disorders/humoral
immunodeficiencies. Testing is performed for patients with a personal or family history
to establish a diagnosis and determine appropriate management of disease based on
the gene involved. Targeted genes include, but are not limited to, AICDA, BLNK, BTK,
CD79A, CD79B (B29), CARD11, CD19, CD27, CD40, CD40LG, CD81, CR2 (CD21), CXCR4, GATA2,
ICOS, IGHM, IGLL1 (Lambda5), IKZF1 (IKAROS), LRBA, LRRC8A, MALT1, MS4A1 (CD20), NFKB2,
PIK3R1, PIK3CD, PLCG2, PRKCD, RNF168, SH2D1A, TCF3 (E47), TNFRSF13B (TACI), TNFRSF13C,
TNFSF12 (TWEAK), and UNG. The overall collection of information typically includes
the gene evaluated, variant(s) detected, interpretation, test methodology, and recommendations.;
Origin ID : 97565-6;
UMLS CUI : C5452378;
Has method
- Has property
- Has scale
- Has system
- Has time aspect
- Semantic type(s)
