Version 2.78

Part Description

LP208608-2   Marker & derivative chromosome analysis
Chromosome complex structural aberration analysis by cytogenetic methods can include spectral karyotyping (SKY), multiplex (M)-FISH and C-banding techniques to identify complex aberrations such as unbalanced translocations and chromosome rearrangements. Both SKY and M-FISH involve "painting" each chromosome a different color using 24 unique fluorochromes and then using the colors to identify subtle structural variations that previously could not be detected. C-banding is a technique that stains constitutive heterochromatin, which is present in centromeric and telomeric DNA, as well as specific other regions of certain chromosomes, such as the Y chromosome. According to one study, M-FISH has been able to identify chromosome abnormalities in up to 7% of patients with previously unexplained mental retardation. Complex structural aberration analysis can be the next step in evaluation when an abnormality is detected but cannot be further identified using more common methods, and the advanced methodologies are being utilized in different domains, including prenatal diagnosis as well as solid and hematologic malignancies. PMID: 12360235 Source: Regenstrief LOINC, PMID: 12360235

Fully-Specified Name

Component
Marker & derivative chromosome analysis
Property
Find
Time
Pt
System
Amnio fld/CVS
Scale
Doc
Method
Cytogenetics

Additional Names

Long Common Name
Marker and derivative chromosome analysis in Amniotic fluid or Chorionic villus sample Document by Cytogenetics
Short Name
Mar + der chrom analy Amn/CVS Doc
Display Name
Marker and derivative chromosome analysis Cytogenetics Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
Marker and Derivative chromosome analysis, Amnio Fld/CVS

Basic Attributes

Class
CYTO
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.56
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Análisis cromosómico de marcadores y derivativos:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Citogenética
es-MX Spanish (Mexico) Análisis de marcadores y cromosomas derivados:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Citogenética
fr-FR French (France) Chromosome analyse des marqueurs et dérivés:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Cytogénétique
it-IT Italian (Italy) Analisi del cromosoma marcatore & derivativo:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Citogenetica
Synonyms: Campione di villi coriali Citologia Liquido amniotico Osservazione Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
zh-CN Chinese (China) 标记染色体与衍生染色体分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:细胞遗传学方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 染色体二体型+染色体三体型 标记与衍生染色体分析;标志染色体与衍生染色体分析;标志与衍生染色体分析 细胞学;细胞学检查 细胞遗传学;细胞遗传学类实验室方法;细胞遗传学类方法;细胞遗传学类检验方法 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=82254-4