LOINC
Version 2.67

94087-4Chromosome analysis in Blood or Tissue by MicroarrayActive

Term Description

Chromosome analysis results by microarray can detect aneuploidy, other structural variations, microdeletions and microduplications. Microarray analysis can detect high resolution copy numbers across the genome and provide allelic imbalance information from single nucleotide polymorphisms.
Source: Regenstrief LOINC

Part Description

LP111376-2   Chromosome analysis
Genetic disorders in humans are often a result of unbalanced chromosome abnormalities with net gain or loss of genetic material. Early technologies for chromosome analysis involved examining the banding patterns to assess chromosome deletion and/or duplication, known as a karyotype. Karotyping does not reveal microdeletions. Newer technologies have emerged including microarray, which includes both array comparative genomic hybridization (arrCGH) and SNP-based microarray, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Microarray can detect aneuploidies, deletions, duplications, and amplifications of any locus within the array. It can identify genetic aberrations that include trisomy 13, trisomy 18 and trisomy 21. [http://www.nature.com/scitable/topicpage/microarray-based-comparative-genomic-hybridization-acgh-45432] FISH is able to demonstrate duplications, deletions, translocations and amplifications of DNA. It is able to assess multiple genetic anomalies using different fluorescent dyes and multiple probes. Among other uses, FISH can detect HER-2/neu to determine if a patient would benefit from treatment with Herceptin and identify BCR-ABL in a patient with chronic myelogenous leukemia to determine if imatinib would be an effective treatment.( https://labtestsonline.org/understanding/features/methods/start/4/) PCR is an analysis that exponentially amplifies certain parts of DNA which makes that DNA recognizable and quantifiable. PCR is used to assist in gene sequencing, identifying and quantifying pathogens and in forensic studies. (http://www.yourgenome.org/facts/what-is-pcr-polymerase-chain-reaction) Source: Regenstrief LOINC

Fully-Specified Name

Component
Chromosome analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Microarray

Additional Names

Short Name
Chrom analy Bld/T Microarray
Display Name
Chr analysis Microarray Doc (Bld/Tiss)

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (CHINA)
染色体分析:发现:时间点:全血/组织:文档型:微阵列
nl-NLDutch (NETHERLANDS)
chromosoomanalyse:bevinding:moment:bloed of weefsel:document:microarray
it-ITItalian (ITALY)
Analisi cromosomica:Osservazione:Pt:Sangue/Tess:Doc:Microarray
es-ESSpanish (SPAIN)
analisis del cromosoma:Hallazgo:Punto temporal:Sangre o tejido:Doc:Micromatriz

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94087-4