Version 2.79

Part Descriptions

LP36215-9   ERBB2 gene
The ERBB2 gene (erb-b2 receptor tyrosine kinase 2) [HGNC Gene ID:3430] is located on chromosome 17q12. This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2064] Source: National Center for Biotechnology Information (NCBI) Gene

LP422046-5   ERBB2 gene duplication
The ERBB2 (erb-b2 receptor tyrosine kinase 2) gene is an oncogene that encodes the HER-2 (human epidermal growth factor receptor 2) receptor, commonly called HER2/neu. HER-2 is a member of the human epidermal growth factor receptor (EGFR) family. Amplification (gene duplication) leading to over-expression of this oncogene is associated with various types of aggressive cancers, including breast and gastric cancers. Detection of gene amplification in tumor specimens by fluorescent in situ hybridization (FISH) is considered the gold standard for HER-2 testing. PMID: 19204209 Source: Regenstrief LOINC

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , FISH

Fully-Specified Name

Component
ERBB2 gene duplication
Property
PrThr
Time
Pt
System
Breast cancer specimen
Scale
Ord
Method
FISH

Additional Names

Long Common Name
ERBB2 gene duplication [Presence] in Breast cancer specimen by FISH
Short Name
ERBB2 gene Dp Br ca spec Ql FISH
Display Name
ERBB2 gene dup FISH Ql (Breast cancer specimen)
Consumer Name Alpha Get Info
ERBB2 gene duplication analysis, Breast cancer specimen

Example Answer List: LL2009-0

Source: ARUP Laboratories
Answer Code Score Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
EquivocalCopyright http://snomed.info/sct ID:42425007 Equivocal (qualifier value) LA11885-3

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.61
Last Updated
Version 2.73 (MIN)
Change Reason
Release 2.70: COMPONENT: Corrected the gene name based on the LOINC model to use the approved HGNC name for the gene that encodes the HER2 receptor. Also added "gene duplication" since this test is detecting the presence or absence of the amplified/duplicated gene.;
Order vs. Observation
Observation
Common Test Rank Get Info
16296

Member of these Panels

LOINC Long Common Name
85904-1 Cancer pathology panel - Breast cancer specimen by CAP cancer protocols

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο ERBB2 διπλασιασμός:PrThr:Pt:Δείγμα καρκίνου του μαστού:Ord:Φθορίζουσα υβριδοποίηση in situ
Synonyms: PrThr Γονίδιο Γονίδιο ERBB2
es-ES Spanish (Spain) Gen ERBB2 Duplicación:PrThr:Punto temporal:Muestra de cancer de mama:Ord:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) HER2:Presencia o umbral:Punto temporal:Muestra de cáncer de mama:Ordinal:Hibridación fluorescente in situ (FISH)
fr-FR French (France) ERBB2 gène duplication:Présence/Seuil:Ponctuel:Tissu mammaire cancereux:Qualitatif:FISH
it-IT Italian (Italy) ERBB2, gene, duplicazione:PrThr:Pt:Tumore della mammella, campione:Ord:FISH
Synonyms: Campione di tumore Campione di tumore della mammella Gene ERBB2 Ibridazione in situ fluorescente (FISH) Neoplasia maligna Patologia molecolare Petto Presenza o Soglia Punto nel tempo (episodio)
zh-CN Chinese (China) ERBB2 基因 复制:存在情况或阈值:时间点:乳腺癌标本:序数型:FISH
Synonyms: c-erb B2;Her2;HER-2/neu;NGL;TKR1;V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/恶性胶质瘤源性癌基因同源基因);V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/恶性胶质瘤源性致癌基因同源基因);V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/成胶质细胞瘤源性癌基因同源基因);V-ERB-B2 禽类成红血细胞性白血病病毒性致癌基因同源基因 2 (神经/成胶质细胞瘤源性致癌基因同源基因);V- Fluorescent in situ hybridization;荧光原位杂交 乳房 乳腺癌（乳癌）标本（样本、样品、试样） 供检查用的材料;待检物;待试验物;样品;样本;试料;试样 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 受检物 基因复制;基因重复;重复 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 样品 样本 癌 癌（癌症、癌变）标本（样本、样品、试样） 试样 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=85318-4