When moments matter: Finding answers with rapid exome sequencing.
Mol Genet Genomic Med
; 8(2): e1027, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-31872981
ABSTRACT
BACKGROUND:
When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients. In this paper, we present the diagnostic rates and improved quality of life for patients undergoing clinical rapid exome sequencing.METHODS:
The clinical histories and results of 41 patients undergoing rapid exome sequencing were retrospectively reviewed.RESULTS:
Clinical rapid exome sequencing identified a definitive diagnosis in 13/41 (31.7%) and other relevant findings in 17 of the patients (41.5%). The average time to verbal report was 7 days; to written report was 11 days.CONCLUSIONS:
Our observations demonstrate the utility and effectiveness of rapid family-based diagnostic exome sequencing in improving patients care.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
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Evaluation_studies
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Prognostic_studies
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Screening_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article