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Term Description

FISH studies are performed to detect a deletion on chromosome 5p15.2. FISH signal pattern indicating a loss of the this region is consistent with a diagnosis of Cri-du-chat syndrome (5p- syndrome). LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).

Part Descriptions

LP172694-4   5p15.2 chromosome
Cri-du-chat syndrome (5p- or 5p minus syndrome) is caused by a deletion of the end of the short (p) arm of chromosome 5. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Studies also show that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. Most cases of cri-du-chat syndrome are not inherited; the deletion occurs as a random or de novo event. About 10 percent of patients with 5p- inherit the chromosome abnormality from an unaffected parent who carries a balance chromosomal translocation, in which no genetic material is gained or lost. Source: Genetic Home Reference, National Library of Medicine, Cri-du-chat syndrome (5p-)

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

LOINC Names Get Info

Fully-Specified Name
5p15.2 chromosome deletion:Prid:Pt:Bld/Tiss:Doc:FISH
Long Common Name
5p15.2 (5p-) chromosome deletion [Identifier] in Blood or Tissue by FISH
Short Name
5p15.2 Del Bld/T FISH
Display Name
5p15.2 (5p-) chromosome del FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
5p15.2 (5p-) chromosome deletion analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    5p15.2 chromosome deletion
    LP227508-1
    • Analyte
      5p15.2 chromosome deletion
      LP227508-1
      • Component Numerator
        5p15.2 chromosome deletion
        LP227508-1
        • Component Numerator Core
          5p15.2 chromosome
          LP172694-4
        • Component Numerator Core Suffix
          deletion
          LP29253-9
      • 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
    Doc
    LP32888-7
  • Method
    FISH
    LP62864-1

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozom 5p15.2 delece:Přítomnost nebo identita:Časový bod:Krev/tkáň:Dokument:Fluorescenční in situ hybridizace (FISH)
el-GRGreek (Greece)Χρωμόσωμα 5p15.2 διαγραφή:Prid:Pt:Αίμα/Ιστός:Doc:Φθορίζουσα υβριδοποίηση in situ
Synonyms: Doc MOLPATH MOLPATH.DELDUP Prid Pt Αίμα Αίμα/Ιστός διαγραφή Ιστός Φθορίζουσα υβριδοποίηση in situ Χρωμόσωμα
es-ESSpanish (Spain)Cromosoma 5p15.2 Deleción:Presencia o identidad:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MXSpanish (Mexico)Deleción del cromosoma 5p15.2:Presencia o identidad:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FRFrench (France)Chromosome 5p15.2 délétion:Identification:Ponctuel:Sang/Tissu:Document:FISH
it-ITItalian (Italy)5p15.2 cromosoma Delezione:Prid:Pt:Sangue/Tess:Doc:FISH
Synonyms: Delezione o duplicazione genica Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)5p15.2-chromosoom deletie:identificator:moment:bloed of weefsel:document:FISH
pl-PLPolish (Poland)Chromosom 5p15.2 delecja:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:dokument:FISH
Synonyms: Delecja prążka 15.2 krótkiego ramienia chromosomu 5 fluorescencyjna hybrydyzacja in situ
tr-TRTurkish (Turkey)5p15.2 kromozom delesyon:MevcKimlik:Zmlı:Kan/Dk:Dokm:FISH
zh-CNChinese (China)5p15.2 染色体 缺失:存在与否或特征标识:时间点:全血/组织:文档型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 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 染色体二体型+染色体三体型 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=95553-4