Table 1 Description of 426 patients assessed using clinical exome sequencing at the Department of Molecular Medicine of the University Hospital of Nancy

 Age at clinical exome sequencing (years)—n, median (IQR)

426

34

(12–48)

 Female—n/N, % (95% CI)

226/426

53.1

(48.3–57.8)

 Male—n/N, % (95% CI)

200/426

46.9

(42.2–51.7)

Institution—n/N, % (95% CI)

 University hospital

412/426

96.7

(95.0–98.4)

 Regional hospital

13/426

3.1

(1.4–4.7)

 Private practice

1/426

0.2

(0*–0.7)

Setting—n/N, % (95% CI)

 Outpatient clinic, University Hospital of Nancy

355/426

83.3

(79.8–86.9)

 Hospital department, University Hospital of Nancy

32/426

7.5

(5.0–10.0)

 Medical day hospital, University Hospital of Nancy

7/426

1.7

(0.4–2.9)

 Outside the University Hospital of Nancy

32/426

7.5

(5.0–10.0)

Adult, pediatric departments—n/N, % (95% CI)

 Adult care department

276/426

64.8

(60.2–69.3)

 Pediatric care department

150/426

35.2

(30.7–39.8)

Geographical region and city—n/N, % (95% CI)

 Nancy

394/426

92.5

(90.0–95.0)

 North-East region, outside Nancy

16/426

3.8

(1.9–5.6)

 Other

16/426

3.8

(1.9–5.6)

Department—n/N, % (95% CI)

 Reference Centre for Inborn Errors of Metabolism (RCIEM)

229/426

53.8

(49.0–58.5)

 Gastrointestinal & Liver diseases

67/426

15.7

(12.3–19.2)

 Endocrinology & Nutrition

57/426

13.4

(10.1–16.6)

 Pediatrics (outside, RCIEM)

20/426

4.7

(2.7–6.7)

 Neurology

12/426

2.8

(1.2–4.4)

 Internal Medicine

11/426

2.6

(1.1–4.1)

 Clinical Genetics

8/426

1.9

(0.6–3.2)

 Vascular Medicine

5/426

1.2

(0.1–2.2)

 Cardiology

4/426

0.9

(0–1.9)

 Hematology

4/426

0.9

(0–1.9)

 Nephrology

3/426

0.7

(0*–1.5)

 Hematology-oncology

2/426

0.5

(0*–1.1)

 Geriatrics

1/426

0.2

(0*–0.7)

 Gynecology and Obstetrics

1/426

0.2

(0*–0.7)

 Orthopedics

1/426

0.2

(0*–0.7)

 Intensive Care

1/426

0.2

(0*–0.7)