In:
Molecular Genetics & Genomic Medicine, Wiley, Vol. 7, No. 7 ( 2019-07)
Abstract:
Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown. Methods RapSeq, a newly developed panel targeting 4,503 disease‐causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty trios were sequenced from October 2015 to March 2017. We assessed diagnostic yield, turnaround times, and clinical consequences. Results A diagnosis was made in 10/20 neonates (50%); eight had de novo variants ( ASXL1 , CHD , FBN1 , KMT2D , FANCB , FLNA , PAX3 ), one was a compound heterozygote for CHAT , and one had a maternally inherited GNAS variant. Preliminary reports were generated by 9.6 days (mean); final reports after Sanger sequencing at 16.3 days (mean). In all positive infants, the diagnosis changed management. In a case with congenital myasthenia, diagnosis and treatment occurred at 17 days versus 7 months in a historical control. Conclusions This study shows that a gene panel that includes the majority of known disease‐causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU.
Type of Medium:
Online Resource
ISSN:
2324-9269
,
2324-9269
DOI:
10.1002/mgg3.2019.7.issue-7
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
2734884-2
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