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Part Descriptions

LP265695-9   DNMT3A gene
The DNMT3A (DNA methyltransferase 3 alpha) gene [HGNC Gene ID:2978] is located on chromosome 2 at 2p23.3. CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016] [NCBI Gene ID:1788] Source: National Center for Biotechnology Information (NCBI) Gene

LP265695-9   DNMT3A gene
The DNMT3A gene encodes the DNA methyltransferase 3 alpha enzyme involved in establishing DNA methylation patterns during embryogenesis and cellular growth and differentiation. Mutations in the DNMT3A gene are associated with DNMT3A overgrowth syndrome, characterized by pre- and postnatal increased growth, intellectual disability and a distinctive, syndrome-specific facial appearance. PMID: 24614070 Somatic mutations in this gene are associated with a wide variety of hematologic malignancies, including acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and chronic myelomonocytic leukemia (CMML). The somatic mutations disrupt the normal pattern of methylation in cells, blocking cellular differentiation. PMID: 26072070[MedlinePlus Gene:DNMT3A] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
DNMT3A gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
DNMT3A gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
DNMT3A gene Mut Bld/T Mut Anl
Display Name
DNMT3A gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNMT3A gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    DNMT3A gene mutations
    LP451894-2
    • Analyte
      DNMT3A gene mutations
      LP451894-2
      • Component Numerator
        DNMT3A gene mutations
        LP451894-2
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Example Answer List: LL744-4

Source: Regenstrief Institute
AnswerCodeScoreAnswer ID
DetectedLA11882-0
Not detectedLA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.78
Last Updated
Version 2.83 (NAM)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen DNMT3A cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο DNMT3A στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο DNMT3A Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
fr-FRFrench (France)DNMT3A gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)DNMT3A, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene DNMT3A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)DNMT3A-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)DNMT3A gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen DNMT3A wynik kategorialny
zh-CNChinese (China)DNMT3A 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=105940-1