46726-6

HTR2A gene+HTR2C gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Descriptions

LP40502-4 HTR2A gene
The HTR2A gene is located on chromosome 13 at position q14-q21 and encodes one of the receptors for serotonin, a neurotransmitter with many roles.[HGNC Gene ID:5293] Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] [NCBI Gene ID: 3356] Source: National Center for Biotechnology Information (NCBI) Gene, HTR2A gene

LP40503-2 HTR2C gene
Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. The HTR2C gene, located at Xq24, encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Source: NCBI Reference Sequence, HTR2C gene

LOINC Names Get Info

Fully-Specified Name: HTR2A gene+HTR2C gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name: HTR2A gene+HTR2C gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: HTR2A+HTR2C gene Mut Anl Bld/T
Display Name: HTR2A gene+HTR2C gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: HTR2A gene+HTR2C gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

Component
HTR2A gene+HTR2C gene targeted mutation analysis
LP228681-5
- Analyte
  HTR2A gene+HTR2C gene targeted mutation analysis
  LP228681-5
  - Component Numerator
    HTR2A gene+HTR2C gene targeted mutation analysis
    LP228681-5
    - Component Numerator Core
      HTR2A gene+HTR2C gene
      LP40501-6
    - Component Numerator Core Suffix
      targeted mutation analysis
      LP32419-1
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.PHARMG
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.67 (MIN)
Change Reason: Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: 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.; Updated System from "Bld" to "Bld/Tiss" since this test can be performed on blood, saliva and other similar specimens.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen HTR2A+HTR2C cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο HTR2A+γονίδιο HTR2C στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.PHARMG Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HTR2A+γονίδιο HTR2C Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	Gen HTR2A+gen HTR2C Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen HTR2A + gen HTR2C:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	HTR2A gène+HTR2C gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	HTR2A, gene+HTR2C, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Farmacogenomica Gene HTR2A+Gene HTR2C Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	HTR2A-gen+HTR2C-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: HTR2A gen+HTR2C gen molgen targeted
pl-PL	Polish (Poland)	HTR2A gen+HTR2C gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna Synonyms: Analiza mutacji genów HTR2A i HTR2C diagnostyka molekularna Geny HTR2A i HTR2C
pt-BR	Portuguese (Brazil)	HTR2A gene+HTR2C análise de mutação genética:Ident:Pt:SgTotal:Nar:Genética molecular Synonyms: ; HTR2A+HTR2C gene; Serotonin Receptor 2A/2C; Identity or presence; Point in time; Random; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; serotonin receptor 2C gene; 5-hydroxytryptamine receptor 2C gene; 5-HT-2C; 5-HT2C; 5-HTR2C; 5HT-1C; HTR1C; 5-HT-2A; 5-hydroxytryptamine receptor 2A gene; serotonin receptor 2A gene; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	HTR2A ген+HTR2C ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	HTR2A geni+HTR2C geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	HTR2A 基因+HTR2C 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 Synonyms: 5HT-1C 5-HT-2A 5-HT2C 5-HT-2C 5-HTR2C 5-羟基色胺受体 2A 基因 5-羟基色胺受体 2C 基因 5-羟色胺受体 2A 基因 5-羟色胺受体 2A 基因（5-hydroxytryptamine receptor 2A gene，5-HT-2A） 5-羟色胺受体 2A/2C;五羟色胺受体 2A/2C;血清素受体 2A/2C 5-羟色胺受体 2C 基因 5-羟色胺受体 2C 基因（5-hydroxytryptamine receptor 2C gene，5-HT-2C） HTR1C 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书五羟色胺受体 2A 基因五羟色胺受体 2C 基因全血或组织;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;结论基因突变分析时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液血清素受体 2A 基因血清素受体 2A 基因（serotonin receptor 2A gene）血清素受体 2C 基因血清素受体 2C 基因（serotonin receptor 2C gene）遗传基因;遗传因子;吉恩;生物基因

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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.