Table 1 SMN1 exon 7, SMN2 exon 7 and total SMN intron 1 copy numbers for patient-derived cell lines measured by QuantStudio 3D array dPCR and combination absolute Q dPCR.

From: Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument

Sample

SMN1 ex7

SMN2 ex7

SMN in1

3D dPCR

|Q| dPCR

3D dPCR

|Q| dPCR

3D dPCR

|Q| dPCR

MND01

0

0.08

3

3.02

3

3.18

MND02

0

0.25

3

3.06

3

3.01

MND03

0

0.03

2

1.96

4

3.93

MND04

0

0.12

3

2.93

3

3.14

MND05

0

0.05

3

3.11

3

3.12

MND06

0

0.10

2

2.23

2

2.04

MND07

0

0.02

3

3.04

3

2.94

MND08

0

0.31

4

3.76

4

4.01

MND09

0

0.04

4

4.10

4

3.81

MND10

1

1.04

1

0.98

2

1.96

MND11

2

2.02

1

1.04

3

2.93

MND12

2

2.16

3

2.77

5

4.84

MND13

0

0.02

3

3.05

3

3.22

MND14

0

0.42

2

2.21

2

2.08

MND15

0

0.03

2

1.89

2

1.96

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