Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Table 4 Summary of clinical and genetic features of 4 diagnosed newborns by NBGS

	Case NP0467	Case NP0865	Case NP0956	Case NP0439
Gender	Male	Female	Female	Male
Age of onset	14 months	3 years old	14 months	3 years old
Biochemical result	Primary screening result:		N/A	N/A
	C3 = 3.5 μmol/L	C0 = 10.5 μmol/L
	C3/C2 = 0.18
	Follow-up result:
	C3 = 5.2 μmol/L	C0 = 7.3 μmol/L
	C3/C2 = 0.34
Birthweight (g)	3650	2700	2900	3660
Gestational age (weeks)	39 + 2	39 + 0	38 + 3	39 + 2
Diagnosed disease	Methylmalonic aciduria	primary systemic carnitine deficiency	Wilson’s disease	Wilson’s disease
Gene	MMACHC	SLC22A5	ATP7B	ATP7B
Genotype	c.609G > A/c.617G > A	c.760C > T/c.1400C > G	c.2333G > A/c.3532A > G	c.3859G > A/c.3859G > A

ISSN: 1750-1172