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Table 4 Number of changes

From: Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

Gene name

Sanger

NextGENe

% called

BCKDHA_1

2

2

100%

BCKDHA_2

4

4

100%

CBS

2

2

100%

CFTR

3

3

100%

DMD

6

6

100%

GAA

20

20

100%

GALC_1

12

12

100%

GALC_2

9

9

100%

GALT

2

2

100%

GBA_1

5

5

100%

GBA_2

3

3

100%

GJB2

2

2

100%

HEXB

7

7

100%

IDUA

13

13

100%

OPA1

3

3

100%

RECQL4

11

11

100%

SGSH

6

6

100%

SMPD1

3

3

100%

ZEB2

2

2

100%

Total changes

119

119

100%

  1. Summary of the number of changes picked up on the validation run.