Table 1 Count of cases requiring a repeat analysis and/or second-tier tests

From: Precision newborn screening for lysosomal disorders

 

Krabbe disease

MPS I

Pompe disease

Combined

Cases requiring a repeat analysis and a second-tier testa

11

57

15

83

Cases informative by repeat analysis and/or by second-tier test and reported as screen positive

1

2

2b

5

Confirmed true positives

1

1

2

4

Confirmed false positives

0

1c

0

1

Detection rate

1:55,161

1:55,161

1:27,581

1:13,791

False-positive rate

0%

0.0018%

0%

0.0018%

Positive predictive value

100%

50%

100%

80%

  1. MPS I, mucopolysaccharidosis type I.
  2. aCounts include additional cases where a noninformative resolution by the 6-plex dual scatter plot was overruled for sensitivity verification purposes.
  3. bOne Pompe case was reported as screen-positive before the second-tier test became available.
  4. cSee text for details.
Back to article page