Version 2.77

Part Description

LP19787-8   DMPK gene.CTG repeats
The DMPK gene (dystrophia myotonica-protein kinase) [HGNC Gene ID:2933] is located on chromosome 19q13.3. The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1760] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
DMPK gene.CTG repeats
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

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

Example Answer List: LL2303-7

Source: Regenstrief LOINC
Answer Code Score Answer ID
Not Expanded LA19353-4
Intermediate LA16550-8
Reduced penetrance LA19354-2
Expanded LA19352-6

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
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
Both
Common Test Rank Get Info
19868

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen DMPK.repeticiones CTG:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Repeticiones CTG del gen DMPK:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen DMPK repeticiones de CTG:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) DMPK gène répétitions CTG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) DMPK, gene.ripetizioni CTG:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: CTG del gene DMPK Gene DMPK Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CTG del gene DMPK Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) DMPK 유전자.CTG 반복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) DMPK-gen.CTG repeats:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: DMPK gen DMPK gen CTG DMPK gen.CTG repeats molgen
pt-BR Portuguese (Brazil) DMPK gene.CTG repetições:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; DMPK gene CTG Rpt; Myotonic dystrophy 1; Dystrophia myotonica-protein kinase gene; DM; DMK; MDPK; Myotonin-protein kinase gene; DM1; 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) DMPK ген.CTG повторы:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DMPK geni.CTG tekrarları:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) DMPK 基因.CTG 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: DM;DM1;DMK;MDPK;强直性肌营养不良症蛋白激酶基因;强直性肌营养不良症-蛋白激酶基因;肌强直性营养不良 1;肌营养不良性肌强直症 1;肌营养不良性肌强直症蛋白激酶基因;肌营养不良性肌强直症-蛋白激酶基因 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 紧张性肌营养障碍蛋白激酶;Dystrophia Myotonica Protein Kinase 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21757-0