When moments matter: Finding answers with rapid exome sequencing.

Powis Z1, Farwell Hagman KD1, Blanco K1, Au M2, Graham JM2, Singh K3, Gallant N3, Randolph LM4, Towne M1, Hunter J1, Shinde DN1, Palmaer E1, Schoenfeld B1, Tang S1.

Author information

1: Ambry Genetics, Aliso Viejo, CA, USA.
2: Department of Pediatrics, Cedars Sinai Medical Center, Los Angeles, CA, USA.
3: Memorial Care Health System Genetics Clinic, Long Beach, CA, USA.
4: Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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.