Version 2.78

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 Get Info
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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Análisis multigénico de inmunodeficiencia primaria de células B:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis multigénico de inmunodeficiencia primaria de células B:Encontrar:Punto temporal:Bld / Tiss:Documento:Molgen
fr-FR French (France) Analyse multigénique de l'immunodéficience primaire des lymphocytes B:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) Cellula B, analisi multigenica dell'immunodeficienza primaria:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) B-cel primaire immunodeficiëntie multigen-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen
zh-CN Chinese (China) B-细胞原发性免疫缺陷多基因分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: B 型 B 细胞 B-细胞 B-细胞（B细胞）原发性免疫缺陷（原发性免疫不全、先天性免疫功能缺陷病）多基因分析 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 免疫机能缺陷;免疫缺乏;免疫缺陷病 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

LOINC Terminology Service (API) using HL7® FHIR® Get Info

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