34727-8
DMPK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP32768-1 DMPK gene
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 targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DMPK gene Mut Anl Bld/T
- Display Name
- DMPK gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DMPK gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.11
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 14759
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen DMPK: |
| es-ES | Spanish (Spain) | Gen DMPK Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen DMPK: |
| fr-FR | French (France) | DMPK gène mutation cible trouvée: |
| it-IT | Italian (Italy) | DMPK, gene analisi di mutazione mirata: Synonyms: Gene DMPK Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | DMPK 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | DMPK-gen doelgerichte mutatie-analyse: Synonyms: DMPK gen molgen targeted |
| pt-BR | Portuguese (Brazil) | DMPK análise de mutação genética: Synonyms: Myotonic dystrophy 1; |
| ru-RU | Russian (Russian Federation) | DMPK ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DMPK geni Mutasyon analizi: |
| zh-CN | Chinese (China) | DMPK 基因 突变分析: Synonyms: DM; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=34727-8
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