Version 2.77

Part Description

LP19788-6   FMR1 gene.CGG repeats
The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

FMR1 gene.CGG repeats

Additional Names

Short Name
FMR1 gene CGG Rpt Bld/T Ql
Display Name
FMR1 gene CGG repeats Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
FMR1 gene CGG Repeats, Blood or tissue specimen

Basic Attributes

First Released
Version 1.0m
Last Updated
Version 2.73
Change Reason
Changed Property from Arb (Arbitrary) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Common Test Rank Get Info

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen FMR1.repeticiones CGG:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Repeticiones CGG del gen FMR1:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen FMR1 repeticiones CGG:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) FMR1 gène répétitions CGG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) FMR1, gene.CGG ripetizioni:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: FMR1 gene CGG Gene FMR1 Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CGG del gene FMR1 Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) FMR1 유전자.CGG 반복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) FMR1-gen.CGG repeats:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: FMR1 gen FMR1 gen CGG FMR1 gen.CGG repeats molgen
pt-BR Portuguese (Brazil) FMR1 gene.CGG repetições:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; FMR1 gene CGG Rpt; Fragile X syndrome; Fragile X mental retardation 1; FRAXA; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Repeat; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RU Russian (Russian Federation) FMR1 ген.CGG повторы:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) FMR1 geni.CGG tekrarları:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) FMR1 基因.CGG 重复序列:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: 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 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 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 未作说明的组织;组织;组织 & 涂片 脆性 X 染色体智力低下 1;Fragile X Mental Retardation 1 脆性 X;脆性 X 智力低下 1;脆性 X 智力缺陷 1;脆性 X 智力迟钝 1;脆性 X 染色体综合征;脆性 X 综合征;脆性 X 综合征智力低下基因 1 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

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