Table 1.
GNA11 Mutation Detection in Capillary Malformation
| Patient | Age | Sex | Location | ddPCR | MIP-seq |
|---|---|---|---|---|---|
| 1 | 9 y/o | F | Lower extremity | 9/2871 (0.3%) | 1/78 (1%) |
| 2 | 9 y/o | F | Lower extremity | 1/2214 (0%)1 | 1/270 (0.4%) |
| 3 | 10 y/o | M | Lower extremity | 0/4306 (0%) | 0/146 (0%) |
| 4 | 14 y/o | F | Lower extremity | 0/3691 (0%) | 0/61 (0%) |
| 5 | 17 y/o | F | Lower extremity | 75/1557 (5%) | 5/94 (5%) |
| 6 | 21 y/o | F | Posterior Trunk | 1/7288 (0%)1 | 0/181 (0%) |
| 7 | 25 y/o | F | Lower extremity | 0/3815 (0%) | - |
| 8 | 27 y/o | M | Upper extremity | 90/3162 (3%) | - |
| Lower extremity | 21/4379 (0.5%) | - |
Abbreviations: F, female; M, male; ddPCR, droplet digital polymerase chain reaction; MIP-seq, molecular inversion probes sequencing.
ddPCR and MIP-seq columns indicate number of droplets and read depth, respectively. The rate of variant/total alleles is also depicted in the aforementioned columns. Dash (−) indicates the assay was not performed.
1
We considered a mutant allele frequency <1/000 to be background noise by ddPCR