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Table 2 Additional cases found by Neoseq

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

Group TMS Neoseq Follow-up
NBS result Recall result Disease Gene Exon Nucleotide change Variant Mode Type
False positive cases of TMS
FP001 C5 = 0.57 C5 = 0.85 Hear loss GJB3 2 c.547G>A Het AD P  
FP002 C3 = 4.15 G6PD G6PD 12 c.1388G>A Hemi AR P  
FP003 C3 = 7.86
C3/C2 = 0.34
C3 = 3.31
C3/C2 = 0.26
MMA MMACHC 1,4 c.80A>G
c.567dup
Het AR P
P
 
Negative cases of TMS
NC001 normal MELAS MTTL1 / m.3244A>G Heteroplasmic AR P  
NC002 normal CH DUOX2 13,14 c.1588A>T
c.1462G>A
Het AR P
P
 
  1. TMS-NGS (panel): NGS followed Tandem Mass Spectrometry, P: Pathogenic, LP: Likely pathogenic, US: Uncertain significance, AR: Autosomal recessive inheritance, AD: Autosomal dominant inheritance, Het: heterozygotes, Hom: homozygosis. Hemi: hemizygote