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J Pediatr Endocrinol Metab. 2017 Aug 28;30(9):979-988. doi: 10.1515/jpem-2017-0003.

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.

Abstract

BACKGROUND:

Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed.

METHODS:

Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay.

RESULTS:

In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively.

CONCLUSIONS:

Applying the DBS-based TNGS assay for the accurate and rapid diagnosis of inborn errors of metabolism (IEMs) is feasible, competent, and advantageous, enabling a simplified TMS screening-based, TNGS assay-integrated newborn screening scheme highlighting an efficient, executable, and one-step screening-to-diagnosis workflow.

KEYWORDS:

dried blood spot; inborn errors of metabolism; newborn screening; tandem mass spectrometry; targeted next generation sequencing

PMID:
28771436
DOI:
10.1515/jpem-2017-0003
[Indexed for MEDLINE]

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