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Table 1 Summary of the comparison between TMS and Neoseq

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

Group n TMS-NGS (panel) Neoseq Consistency (%)
NBS result Recall result Gene positive Gene negative Positive Inconclusive Negative
True positive cases of TMS 36 Abnormal Abnormal 36 0 20 8 8 55.6
 Amino acid metabolism 17 Abnormal Abnormal 17 0 7 4 6 41.2
 Organic acid metabolism 7 Abnormal Abnormal 7 0 3 3 1 42.9
 Fatty acid metabolism 12 Abnormal Abnormal 12 0 10 1 1 83.3
False positive cases of TMS 60 Abnormal Normal 3 0 0
Negative cases of TMS 100 Normal Normal 2 0 0
  1. TMS: Tandem Mass Spectrometry, NBS: Newborn Screening, NGS: next-generation sequencing