96984-0
Chromosome analysis in Products of Conception by Microarray
Active
Term Description
Chromosome analysis by microarray can detect aneuploidy, triploidy, deletions/duplication, uniparental disomy (UPD), and other structural variations. Single nucleotide polymorphisms (SNP)-based analysis is used to detect high resolution copy numbers across the genome to detect allelic imbalance information.
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
- POC
- Scale
- Doc
- Method
- Microarray
Additional Names
- Long Common Name
- Chromosome analysis in Products of Conception by Microarray
- Short Name
- Chrom analy POC Microarray
- Display Name
- Chr analysis Microarray Doc (Products of Conception)
- Consumer Name Alpha Get Info
- Chromosome analysis, Products of Conception
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.70 (ADD)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Ανάλυση χρωμοσωμάτων: Synonyms: Ανάλυση χρωμοσωμάτων Εύρεση Χρωμόσωμα |
| 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) |
| pl-PL | Polish (Poland) | Badanie chromosomów: Synonyms: Kariotypowanie |
| zh-CN | Chinese (China) | 染色体分析: Synonyms: Products of Conception; |
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LOINC Copyright
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