LOINC
Version 2.73

100761-6PALB2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodActive

Part Description

LP208439-2   PALB2 gene
The PALB2 gene (partner and localizer of BRCA2) [HGNC Gene ID:26144] is located on chromosome 16p12.2. This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008] [NCBI Gene ID:79728] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PALB2 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
PALB2 Mut Anl Bld/T
Display Name
PALB2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha
PALB2 gene variant analysis, Blood or tissue specimen

Example Answer List LL759-2

Source: Regenstrief Institute

Answer Code Score Answer ID
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.73
Last Updated
Version 2.73
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
PALB2 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
PALB2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
it-ITItalian (Italy)
PALB2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
es-ESSpanish (Spain)
Gen PALB2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100761-6