Table 2 Child demographics.

From: “The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care

 

n

%

Modality of diagnosis

 Clinical referral

13

59

 Newborn screening

7

32

 Antenatally

1

4.5

 Family history

1

4.5

Diagnostic grouping of conditions

 Metabolic

6

27

 Neuromuscular

5

23

 Childhood dementia

3

14

 Neurodevelopmental

2

9

 Cancer

2

9

 Immunological

2

9

 Respiratory

1

4.5

 Endocrine

1

4.5

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