Table 2 The C-NBS true positive newborns identified positive by NBGS

1

PAHD (PAH)

PHE: 120–769 μmol/L

PHE/TYR: 1.2–12

PHE > 100 μmol/L,

PHE/TYR > 1.2

[c.1068C > A/c.505C > A]; [c.688G > A/c.688G > A];

[c.728G > A/c.728G > A]; [c.722delG/c.466G > C]; [c.1216A > G/c.8C > T]; [c.721C > T/c.721C > T]; [c.194 T > C/c.158G > A]; [c.975C > G/c.158G > A]; [c.1068C > A/c.158G > A]; [c.1162G > A/c.158G > A]; [c.331C > T/c.158G > A]; 2* [c.728G > A/c.158G > A];

[c.1252A > C/c.158G > A]; [c.838G > A/c.1123C > G];

15

2

G6PDD (G6PD)

G6PD/6PGD: 0.3–0.9

G6PD/6PGD < 1.0

Male

5* [c.1466G > T];3* [c.1478G > A]

2* [c.1114C > T]; 2* [c.185A > G];

Female

[c.185A > G]; [c.1388G > A]

14

3

PCD (SLC22A5)

C0: 7–7.3 μmol/L

C0 < 9.5 μmol/L

2* [c.760C > T/c.1400C > G]; [338G > A/c.1400C > G];

[c.428C > T/c.1400C > G]; [c.497 + 1G > T/c.760C > T]

5

4

SCADD (ACADS)

C4 = 1.14 μmol/L

C4 > 0.7 μmol/L

c.164C > T/c.1130C > T

1

5

Tetrahydrobiopterin deficiency (PTS)

PHE = 318 μmol/L

PHE/TYR = 4.2

PHE > 100 μmol/L,

PHE/TYR > 1.2

c.317C > T/c.84-291A > G

1

Total

36