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