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Table 6 Specificity of diagnosis calls by TaqMan-based ddPCR

From: Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

Outcome ddPCR assay

Positive

Negative

Total

Positive

80

0

80

Negative

0

15

15

Total

80

15

95

  1. Results obtained by TaqMan-based ddPCR are compared to the diagnosis of 22q11DS obtained by FISH using the TUPLE1 gene Specificity was 100% as all 80 individuals were correctly identified as having 1 copy of the TUPLE1 gene.