Table 6 Predictors of confirming the suspected clinical diagnosis using clinical exome sequencing in univariate and multivariable analyses

Suspected diagnosis subgroup, Hypercholesterolemia

1.02

(0.34)

2.76

(1.41–5.41)

1.92 × 10⁻³

1.08

(0.34)

2.94

(1.52–5.70)

Exome sequencing on the proband and at least one family member

0.81

(0.23)

2.25

(1.42–3.56)

4.27 × 10⁻⁴

0.64

(0.24)

1.90

(1.20–3.01)

Suspected diagnosis group, Liver disorder

 − 1.29

(0.34)

0.28

(0.14–0.53)

3.81 × 10⁻⁵

 − 1.19

(0.39)

0.30

(0.14–0.65)

Suspected diagnosis group, Osteogenesis imperfecta

1.8

(1.08)

6.03

(0.72–50.51)

4.75 × 10⁻²

Not retained§

Suspected diagnosis subgroup, One-carbon metabolism disorder

0.65

(0.23)

1.91

(1.21–3.01)

4.59 × 10⁻³

Not retained§

Department, Reference Center for Inborn Errors of Metabolism

0.59

(0.2)

1.8

(1.22–2.64)

2.67 × 10⁻³

Not retained§

Suspected diagnosis subgroup, Metabolic disorder

0.42

(0.2)

1.52

(1.03–2.24)

3.47 × 10⁻²

Not retained§

Suspected diagnosis group, Inflammatory and autoinflammatory disease

 − 1.01

(0.54)

0.36

(0.13–1.04)

4.55 × 10⁻²

Not retained§

Department, Gastrointestinal and Liver diseases

 − 1.2

(0.3)

0.3

(0.17–0.54)

1.90 × 10⁻⁵

Not retained§

Setting, Medical day hospital

 − 1.83

(1.08)

0.16

(0.02–1.34)

4.24 × 10⁻²

Not retained§

Suspected diagnosis group, Pancreatitis

 − 1.99

(1.07)

0.14

(0.02–1.12)

2.18 × 10⁻²

Not retained§

Suspected diagnosis subgroup, Cholestatic disorder

 − 2.47

(1.05)

0.08

(0.01–0.66)

1.41 × 10⁻³

Not retained§