LOINC
Version 2.70

97565-6B-cell primary immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics methodActive

Term 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.
Source: Regenstrief LOINC

Fully-Specified Name

Component
B-cell primary immunodeficiency multigene analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
B-cell PI multigene Bld/T
Display Name
B-cell primary immunodeficiency multigene analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha
B-cell primary immunodeficiency multigene analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Both

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=97565-6