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Table 3 Health professionals and others involved in diagnosis

From: Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Who initially raised the possibility of your child’s diagnosis? N (%) Who confirmed the final diagnosis for your child? N (%)
Paediatrician 114 (26.6) Geneticist 194 (45.3)
Geneticist 83 19.4) Paediatrician 74 17.3)
Neurologist 43 (10.0) Neurologist 54 (12.6)
Testing/newborn screening 24 (5.6) Metabolic specialist 18 (4.2)
Nurse 20 (4.7) Team of Specialists 11 (2.6)
General Practitioner 18 (4.2) Cardiologist 8 (1.9)
Obstetrician 17 (4.0) Gastroenterologist 5 (1.2)
Parent 17 (4.0) General Practitioner 4 (0.9)
Neonatologist 9 (2.1) Neonatologist 4 (0.9)
Team of Specialists 9 (2.1) Nephrologist 4 (0.9)
Relative 7 (1.6) Obstetrician 3 (0.7)
Metabolic specialist 7 (1.6) Ophthalmologist 3 (0.7)
Allied Health Professional 7 (1.6) Surgeon 3 (0.7)
Cardiologist 5 (1.2) Haematologist 2 (0.5)
Gastroenterologist 5 (1.2) Dermatologist 2 (0.5)
Teacher 4 (0.9) Nurse 1 (0.2)
Nephrologist 3 (0.7) Rheumatologist 1 (0.2)
Dermatologist 3 (0.7) Radiologist 1 (0.2)
Haematologist 2 (0.5) Oncologist 1 (0.2)
Ophthalmologist 2 (0.5) Respiratory physician 1 (0.2)
Surgeon 2 (0.5) Intensivist 1 (0.2)
Emergency Specialist 2 (0.5) Immunologist 1 (0.2)
Rheumatologist 1 (0.2) Hepatologist 1 (0.2)
Radiologist 1 (0.2) Endocrinologist 1 (0.2)
Endocrinologist 1 (0.2) Otherb 15 (3.6)
Respiratory physician 1 (0.2)   
Anaesthetist 1 (0.2)   
Dentist 1 (0.2)   
Othera 7 (1.6)   
Total responses 420 Total responses 415
  1. aOther included doctor or specialist not further specified, researcher or family friend
  2. bOther includes doctor/professor not further specified including a doctor from overseas and “genetic testing”