Table 3.
Use of Genetic Testing to Predict Focal KATP HI Lesion
| Focal HI | Diffuse HI | |
|---|---|---|
| Single recessive KATP mutation | 145 | 9 |
| Paternal single recessive KATP mutation | 120 | 7 |
| No single recessive KATP mutations | 4 | 84 |
For prediction of focal HI based on a single recessive KATP mutation, sensitivity = 97%, specificity = 90%, positive predictive value = 94%, and negative predictive value = 95%. For prediction of focal HI based on a single paternal recessive KATP mutation, sensitivity = 97%, specificity = 92%, positive predictive value = 94%, and negative predictive value = 95%.