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Table 1 The number of potential causal mutations identified by the two different sequencing techniques and stratified according to gender (M, male; F, female). *There is an overlap of samples completing multiple sequencing when there has been no mutation identified via the previous sequencing technique which shows an improved diagnostic rate using the GRC NGS 5-gene panel compared to targeted exon Sanger sequencing

From: Investigating diagnostic sequencing techniques for CADASIL diagnosis

Sequencing technique

Sample number tested

Gender and age of testing, ± SD

Mutations identified

Number. of Cys-sparing mutations

Number of pathogenic (HGMD/ClinVar)

Number of unreported mutations

Sanger

M = 139

M = 49.77 ± 13.55

M = 16 (11.5%)

M = 1 (6.3%)

M = 16 (100%)

M = 0 (0%)

F = 268

F = 50.91 ± 14.12

F = 28 (10.4%)

F = 2 (7.1%)

F = 27 (96.4%)

F = 1 (3.6%)

M + F = 407

M + F = 50.52 ± 13.94

M + F = 44 (10.6%)

M + F = 3 (6.8%)

M + F = 43 (97.7%)

M + F = 1 (2.3%)

GRC NGS 5-gene custom panel

M = 133

M = 51.60 ± 13.90

M = 25 (18.8%)

M = 9 (36.0%)

M = 15 (60.0%)

M = 14 (56%)

F = 221

F = 51.01 ± 14.70

F = 31 (14.0%)

F = 12 (38.7%)

F = 23 (74.2%)

F = 8 (25.8%)

M + F = 354

M + F = 51.39 ± 14.41

M + F = 56 (15.8%)

M + F = 21 (37.5%)

M + F = 38 (67.9%)

M + F = 18 (32.1%)

Total*

M = 244

M = 51.04 ± 13.84

M = 41 (16.8%)

M = 10 (24.4%)

M = 31 (75.6%)

M = 14 (56%)

F = 436

F = 51.98 ± 14.29

F = 59 (13.5%)

F = 14 (23.7%)

F = 50 (84.7%)

F = 8 (25.8%)

M + F = 680

M + F = 51.64 ± 14.14

M + F = 100 (14.7%)

M + F = 24 (24%)

M + F = 81 (81.0%)

M + F = 19 (19.0%)