Table 3 Diagnostic performance of the DPYD variants assessed in predicting DPD enzymatic deficiency.

From: A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency

A

[U] > 16 ng/ml

Allele functional status

% Sensitivity [95% CI]

% Specificity [95% CI]

% PPV [95% CI]

% NPV [95% CI]

c.1679T>G

No function

0.8 [0.09-2]

99 [99.7-99.9]

50 [7–93]

93 [92–94]

c.1905 + 1G>A

No function

3.5 [1.6–6.7]

99.5 [99.2–99.7]

36 [18–57]

93 [92–94]

c.2846 A>T

Decreased function

2.7 [1.1–5.6]

99 [98–99.5]

20.5 [8–37]

93 [92–94]

c.1129–5923C>G

Decreased function

4.3 [2.2–7.7]

97 [97–98]

10 [5–17]

93 [92–94]

Any of the 4 mutations

No or decreased function

10.7 [7–15]

95 [95–96]

16 [11–22]

93 [92–94]

B

[UH2]/[U] < 10

Allele functional status

% Sensitivity [95% CI]

% Specificity [95% CI]

% PPV [95% CI]

% NPV [95% CI]

c.1679T>G

No function

0.7 [0.15–0.2]

99 [99.7–99.9]

75 [19–99]

88 [87–89]

c.1905 + 1G>A

No function

4 [2–6]

99.7 [99.5–99.8]

68 [46–85]

88 [87–89]

c.2846 A>T

Decreased function

3.7 [2–6]

99.4 [99.1–99.6]

47 [29–64]

88 [87–89]

c.1129–5923C>G

Decreased function

5 [4–8]

97 [96–98]

22 [14–30]

88 [87–89]

Any of the 4 mutations

No or decreased function

13.3 [10–17]

96 [95–97]

33 [26–41]

89 [88–90]

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