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 | – |