NeoSeq: a new method of genomic sequencing for newborn screening.

ABSTRACT:

Objective

To explore the clinical application of NeoSeq in newborn screening.

Methods

Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing.

Results

Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference

SUBMITTER: Wang H 

PROVIDER: S-EPMC8600711 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature