Version 2.78

Part Descriptions

LP189734-9   CALR gene exon 9
The CALR (calreticulin) gene [HGNC Gene ID: 1455] is located on chromosome 19p13.3-p13.2. Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008][HGNC Gene ID:811] Source: National Center for Biotechnology Information (NCBI) Gene

LP189734-9   CALR gene exon 9
Somatic mutations located in exon 9 of the CLAR gene are found in a about 65-85% of patients with myeloproliferative neoplasms, including essential thrombocythemia (ET) and primary myelofibrosis (PMF), and with nonmutated JAK2 and MPL genes. PMID: 24325359 The clinical course for patients with CLAR mutations are associated with longer risk of thrombosis and longer overall survival compared to patients with JAK2 mutations. PMID: 24325356 Over 160 unique mutations have been found in the CALR gene.[COSMIC: CALR] Source: Regenstrief LOINC

Fully-Specified Name

Component
CALR gene exon 9 targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CALR Exon 9 Mut Anl Bld/T
Display Name
CALR gene exon 9 targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CALR gene Exon 9 targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL3290-5

Source: Catalogue Of Somatic Mutations In Cancer
Code System
COSMIC
Code System OID
2.16.840.1.113883.3.912
Link to External List
http://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CALR
Answer Code Score Answer ID
p.L367fs*46 LA22757-1
p.K385fs*47 LA22760-5
p.K368fs*51 LA22759-7
p.E364fs*46 LA22758-9
Negative for the mutations and variants analyzed LA22756-3

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
9778

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Calreticulin Exon 9 Mutationsanalyse
es-ES Spanish (Spain) gen CALR, exon 9 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al exón 9 del gen CALR:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CALR gène exon 9 mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
fr-CA French (Canada) Gène CAL exon 9 ciblé, analyse de la mutation:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
it-IT Italian (Italy) CALR, gene exon 9 analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CALR-gen exon 9 doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CALR gen exon 9 molgen targeted
tr-TR Turkish (Turkey) CALR geni ekzon 9 Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) CALR 基因外显子 9 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 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=77174-1