94087-4
Chromosome analysis in Blood or Tissue by Microarray
Active
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)
- Consumer Name Alpha Get Info
- Chromosome analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | analisis del cromosoma: |
| es-MX | Spanish (Mexico) | Análisis de cromosomas: |
| fr-FR | French (France) | Analyse chromosome: |
| it-IT | Italian (Italy) | Analisi cromosomica: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | chromosoomanalyse: |
| pl-PL | Polish (Poland) | Badanie chromosomów: Synonyms: Kariotypowanie |
| zh-CN | Chinese (China) | 染色体分析: Synonyms: 临床文档型; |
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