NeoSeq: a new method of genomic sequencing for newborn screening

Table 2 Additional cases found by Neoseq

Group	TMS		Neoseq							Follow-up
Group	NBS result	Recall result	Disease	Gene	Exon	Nucleotide change	Variant	Mode	Type	Follow-up
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

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

ISSN: 1750-1172