38891-8

ABCC8 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP34966-9 ABCC8 gene
The ABCC8 gene (ATP-binding cassette, sub-family C (CFTR/MRP), member 8) [HGNC Gene ID:59] is located on chromosome 11p15.1. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] [NCBI Gene ID:6833] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: ABCC8 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: ABCC8 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: ABCC8 gene Mut Anl Bld/T
Display Name: ABCC8 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: ABCC8 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.15
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.; 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
Common Test Rank Get Info: 13378

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Sulfonylur.Rz.1 Gen.
es-ES	Spanish (Spain)	Gen ABCC8 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen ABCC8:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	ABCC8 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	ABCC8, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene ABCC8 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	ABCC8 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	ABCC8-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: ABCC8 gen molgen targeted
pt-BR	Portuguese (Brazil)	AcCC8 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: AcC36; HI; HRINS; MRP8; PHHI; SUR; SUR1; ATP-binding cassette, sub-family C (CFTR/MRP), member 8; Sulfonylurea receptor 1; Hyperinsulinemia; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	ABCC8 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)	ABCC8 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	ABCC8 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: ABC36;ATP 结合盒, 亚家族 C (CFTR/MRP), 成员 8;ATP 结合盒, 子家族 C (CFTR/MRP), 成员 8;HI;HRINS;MRP8;PHHI;SUR;SUR1;三磷酸腺苷结合盒, 亚家族 C (CFTR/MRP), 成员 8;三磷酸腺苷结合盒, 子家族 C (CFTR/MRP), 成员 8;磺胺尿素受体1;磺酰脲受体1;腺苷三磷酸结合盒, 亚家族 C (CFTR/MRP), 成员 8;腺苷三磷酸结合盒, 子家族 C (CFTR/MRP), 成员 8;血胰岛素增多;高胰岛临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;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;血液遗传基因;遗传因子;吉恩;生物基因

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