Version 2.78

Term Description

The detection of chromosome 21 aneuploidy in amniotic fluid based on fluorescence in situ hybridization (FISH) analysis.
Source: Regenstrief LOINC

Part Descriptions

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

LP99576-8   Chromosome 21 aneuploidy
Chromosome 21 aneuploidy is a chromosome abnormality involving missing or extra chromosomes at chromosome 21. Source: Regenstrief Institute

Fully-Specified Name

Component
Chromosome 21 aneuploidy
Property
PrThr
Time
Pt
System
Amnio fld/CVS
Scale
Ord
Method
FISH

Additional Names

Short Name
Chr 21 aneup Amn/CVS Ql FISH
Display Name
Chr 21 aneuploidy FISH Ql (Amnio fld/CVS)
Consumer Name Alpha Get Info
Chromosome 21 aneuploidy, Amnio Fld/CVS

Example Answer List: LL2872-1

Source: Laboratory Corporation of America
Answer Code Score Answer ID
Not detected LA11883-8
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.66
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) aneuploidía cromosoma 21:PrThr:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Ord:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Aneuploidía del cromosoma 21:Presencia o umbral:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Ordinal:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Chromosome 21 aneuploïdie:Présence/Seuil:Ponctuel:Liquide amniotique/Villosités choriales:Qualitatif:FISH
it-IT Italian (Italy) Cromosoma 21, aneuploidia:PrThr:Pt:Liquido amniotico/Villi coriali, prelievo:Ord:FISH
Synonyms: Aneuploidia del cromosoma 21 Campione di villi coriali Ibridazione in situ fluorescente (FISH) Liquido amniotico Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Presenza o Soglia Punto nel tempo (episodio)
pl-PL Polish (Poland) Aneuploidia chromosomu 21:granica wykrywalności:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:półilościowy:fluorescencyjna hybrydyzacja in situ (FISH)
zh-CN Chinese (China) 染色体 21 非整倍体性:存在情况或阈值:时间点:羊水/绒毛膜绒毛样本:序数型:FISH
Synonyms: 21号染色体非整倍体型;21号染色体非整倍性;染色体 21 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性） Fluorescent in situ hybridization;荧光原位杂交 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 分子病理学;分子病理学试验 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 染色体二体型+染色体三体型 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水

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