LP111376-2
Chromosome analysis
Active
Description
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
Basic Part Properties
- Part Display Name
- Chromosome analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-12-02
- Construct for LOINC Short Name
- Chrom analy
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | analisis del cromosoma |
| zh-CN | Chinese (China) | 染色体分析 |
| it-IT | Italian (Italy) | Analisi cromosomica |
| nl-NL | Dutch (Netherlands) | chromosoomanalyse |
| pl-PL | Polish (Poland) | Badanie chromosomów Synonyms: Kariotypowanie |
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