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Table 1 Completion rates of Target 5000 Algorithm Steps

From: Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

 

n = 

% total

% category

Phenotyped (B)

1482

100

 

Research NGS complete (C)

1004

67.7

 

Positive research NGS

700

47.2

69.7

Negative research NGS

304

20.5

30.3

Accredited testing result (E)

440

29.7

62.9

Genetically eligible for trials

50

3.4

11.4

  1. Stage indicated by letter in parentheses refers to Fig. 2