mutation detection

[mjuːˈteɪʃən dɪˈtɛkʃən]
nounpl: mutation detections
detecção de mutação
1. The identification and analysis of genetic changes or alterations in DNA sequences, typically used in medical diagnostics, research, or genetic testing
Mutation detection in cancer cells helps oncologists determine the most effective treatment strategy.
A detecção de mutação em células cancerígenas ajuda os oncologistas a determinar a estratégia de tratamento mais eficaz.
2. Laboratory techniques or processes used to identify genetic variations that may cause disease or affect phenotype
Modern mutation detection methods include DNA sequencing, PCR-based assays, and gene chip technology.
Os métodos modernos de detecção de mutação incluem sequenciamento de DNA, ensaios baseados em PCR e tecnologia de microarray genético.
3. The clinical application of identifying inherited or acquired mutations for diagnosis, prognosis, or treatment planning
Mutation detection in BRCA1 and BRCA2 genes is crucial for assessing breast cancer risk.
A detecção de mutação nos genes BRCA1 e BRCA2 é crucial para avaliar o risco de câncer de mama.
Mutation detection is a critical component of modern healthcare in both Brazil and the United States, particularly in oncology, genetic counseling, and precision medicine. In Brazil, genetic testing services have expanded significantly in major urban centers like São Paulo and Rio de Janeiro, though access remains more limited in rural areas. In the USA, mutation detection is routinely integrated into clinical practice for cancer screening, inherited disease diagnosis, and treatment planning, with significant insurance coverage. The term is primarily used in medical, scientific, and healthcare professional contexts in both countries.
Synonyms / Sinônimos
genetic mutation identificationvariant detectiongene sequencingmolecular diagnosticsDNA analysis
Antonyms / Antônimos
genetic normalcywild-type confirmation

Regional Variations

General Brazilian
detecção de mutação
Standard term used in medical and scientific contexts across Brazil
Rio de Janeiro
detecção de mutação / identificação de mutação
Both terms commonly used in medical institutions and research centers
São Paulo
detecção de mutação
Predominant term in major medical and biotechnology centers
Portugal
detecção de mutação / deteção de mutação
European Portuguese spelling variation (deteção) used in Portugal; same meaning and context

Related Words

DNA sequencinggenetic testinggenotypingvariant analysismolecular pathologygenomic analysisPCR testingbioinformatics

Related Idioms & Phrases

mutation detection panel - um conjunto de testes genéticos para detectar múltiplas mutações
early mutation detection - detecção precoce de mutações para diagnóstico preventivo
high-sensitivity mutation detection - detecção de mutação com alta sensibilidade
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