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Part Descriptions

LP36884-2   CASR gene
The CASR gene (calcium-sensing receptor) [HGNC Gene ID:1514] is located on chromosome 3q13. The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008] [NCBI Gene ID:846] Source: National Center for Biotechnology Information (NCBI) Gene

LP36884-2   CASR gene
The CASR gene encodes a calcium-sensing receptor protein that is expressed in the parathyroid gland and binds extracellular calcium. If hypercalcemia occurs, the receptor activates the parathyroid G-protein pathway, which results in increased intracellular calcium levels and suppression of PTH gene transcription, and also increases renal calcium excretion. Inactivating CASR mutations result in various forms of hyperparathyroidism and hypercalcemia, while activating mutations lead to hypoparathyroidism and hypocalcemia. [NCBI Books: NBK279022] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
CASR gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
CASR gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
CASR gene Mut Bld/T Mut Anl
Display Name
CASR gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CASR gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    CASR gene mutations
    LP452092-2
    • Analyte
      CASR gene mutations
      LP452092-2
      • Component Numerator
        CASR gene mutations
        LP452092-2
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.83 (NAM)
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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CASR cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CASR στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CASR Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen CASR:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen CASR Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)CASR gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)CASR, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene CASR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)CASR-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CASR gen molgen targeted
pl-PLPolish (Poland)CASR gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu CASR diagnostyka molekularna Gen CASR wynik kategorialny
pt-BRPortuguese (Brazil)CASR análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism); FHH; FIH; GPRC2A; HHC; HHC1; MGC138441; NSHPT; PCAR1; Extracellular calcium-sensing receptor precursor; Parathyroid Cell calcium-sensing receptor; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)CASR ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)CASR geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)CASR 基因 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: CaSR;FHH;FIH;GPRC2A;HHC;HHC1;MGC138441;NSHPT;PCAR1;甲状旁腺细胞钙传感受体;甲状旁腺细胞钙-传感受体;甲状旁腺细胞钙-感受受体;甲状旁腺细胞钙感觉受体;甲状旁腺细胞钙敏受体;甲状旁腺细胞钙敏感受体;细胞外钙传感受体前体;细胞外钙-传感受体前体;细胞外钙受体;细胞外钙-感受受体前体;细胞外钙感觉受体前体;细胞外钙敏受体前体;细胞外钙敏感受体前体;钙传感受体(低尿钙高血钙症 1, 严重新生儿甲状旁腺功能亢进);钙-传感受体(低尿钙高血钙症 1, 严重新生儿甲状 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=45190-6