When moments matter: Finding answers with rapid exome sequencing.

Autor: Powis Z; Ambry Genetics, Aliso Viejo, CA, USA., Farwell Hagman KD; Ambry Genetics, Aliso Viejo, CA, USA., Blanco K; Ambry Genetics, Aliso Viejo, CA, USA., Au M; Department of Pediatrics, Cedars Sinai Medical Center, Los Angeles, CA, USA., Graham JM; Department of Pediatrics, Cedars Sinai Medical Center, Los Angeles, CA, USA., Singh K; Memorial Care Health System Genetics Clinic, Long Beach, CA, USA., Gallant N; Memorial Care Health System Genetics Clinic, Long Beach, CA, USA., Randolph LM; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA., Towne M; Ambry Genetics, Aliso Viejo, CA, USA., Hunter J; Ambry Genetics, Aliso Viejo, CA, USA., Shinde DN; Ambry Genetics, Aliso Viejo, CA, USA., Palmaer E; Ambry Genetics, Aliso Viejo, CA, USA., Schoenfeld B; Ambry Genetics, Aliso Viejo, CA, USA., Tang S; Ambry Genetics, Aliso Viejo, CA, USA.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Feb; Vol. 8 (2), pp. e1027. Date of Electronic Publication: 2019 Dec 24.
DOI: 10.1002/mgg3.1027
Abstrakt: 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.
(© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)
Databáze: MEDLINE
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