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Table 7 Specificity of diagnosis calls by qPCR

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

Outcome qPCR assay

Positive

Negative

Total

Positive

17

0

17

Negative

12

11

23

Total

29

11

40

  1. Results obtained by qPCR are compared to the diagnosis of 22q11DS obtained by FISH using the TUPLE1 gene. Specificity of diagnosis calls for qPCR was 58.6% as ddPCR results, conducted in a subgroup of 40 individuals (29 with 22q11DS and 11 TD) correctly identified 1 copy of the TUPLE1 gene only in 17 individuals with 22q11DS.
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BMC Medical Genetics

ISSN: 1471-2350

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