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Part Descriptions

LP63620-6   Subtelomere analysis
Test to examine the ends of all chromosomes for deletions or rearrangements. Source: Regenstrief Institute

LP63620-6   Subtelomere analysis
Telomeres are DNA-protein structures located at the end of each chromosome and containing long stretches of (TTAGGG) in repeats of variable length (3-20kb). They protect chromosomes from deterioration and prevent fusion with other chromosomes. The region adjacent to the telomeric repeats is called the subtelomere, which also contains segments of repetitive stretches of DNA. Subtelomeres are found to be relatively gene-rich due to frequent duplication and recombination events. Deletions and rearrangements in subtelomere regions have been associated with mental retardation and congenital abnormalities. Cytogenetic analysis of subtelomeres is difficult due to low resolution using conventional banding techniques. FISH probes specific for subtelomeric regions on both the long and short arms of chromosomes are useful for detecting subtle rearrangements. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Subtelomere analysis:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Subtelomere analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
Subtelomere analysis Bld/T
Display Name
Subtelomere analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Subtelomere analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    Subtelomere analysis
    LP63620-6
    • Analyte
      Subtelomere analysis
      LP63620-6
      • Component Numerator
        Subtelomere analysis
        LP63620-6
        • Component Numerator Core
          Subtelomere analysis
          LP63620-6
        • Component Numerator Core Suffix
          NULL
           
      • 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
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.32
Last Updated
Version 2.32 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Subtelomery analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Ανάλυση υποτελομερών:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH Nom Prid Pt Αίμα Αίμα/Ιστός Ανάλυση υποτελομερών Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Análisis subtelomérico:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de subtelómeros:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Subtélomère analyse:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Analisi subtelomerica:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)subtelomeer analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Analiza regionów subtelomerowych:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (Brazil)Análise subtelomero:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RURussian (Russian Federation)Субтеломерный анализ:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Alt telomer analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)亚端粒分析: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;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 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=58454-0