Representative ddPCR analyses of NCF1 in gDNA from normal subjects and CGD patients and carriers
| Row . | Diagnosis (a priori) . | No. of GTGT droplets . | No. of ΔGT droplets . | GTGT/(GTGT + ΔGT) . | ΔGT/(GTGT + ΔGT) . | No. of NCF1/NCF1B/NCF1C droplets . | No. of TERT droplets . | Total NCF1/NCF1B/NCF1C copies . | No. of GTGT copies . | No. of ΔGT copies . | GTGT copies/(GTGT + ΔGT) . | Predicted genotype . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Normal | 724 | 1416 | 0.34 | 0.66 | 271 | 92 | 5.9 | 2.0 | 3.9 | 2/6 | — |
| 2 | Normal | 212 | 436 | 0.33 | 0.67 | 212 | 74 | 5.7 | 1.9 | 3.9 | 2/6 | — |
| 3 | Normal | 362 | 358 | 0.50 | 0.50 | 201 | 70 | 5.7 | 2.8 | 2.8 | 3/6 | — |
| 4 | Normal | 535 | 267 | 0.67 | 0.33 | 227 | 78 | 5.9 | 3.9 | 2.0 | 4/6 | — |
| 5 | Normal | 555 | 1357 | 0.29 | 0.71 | 502 | 140 | 7.2 | 2.1 | 5.1 | 2/7 | — |
| 6 | p47phox CGD | 0 | 1080 | 0.00 | 1.0 | 5290 | 1793 | 6.0 | 0.0 | 6.0 | 0/6 | Homozygous ΔGT mutation |
| 7 | p47phox CGD | 0 | 2640 | 0.00 | 1.0 | 1921 | 637 | 6.0 | 0.0 | 6.0 | 0/6 | Homozygous ΔGT mutation |
| 8 | p47phox CGD | 852 | 4340 | 0.16 | 0.84 | 862 | 268 | 6.4 | 1.1 | 5.4 | 1/6 | Compound heterozygous for ΔGT and non-ΔGT mutations |
| 9 | p47phox CGD | 843 | 1731 | 0.33 | 0.67 | 127 | 42 | 6.0 | 2.0 | 4.1 | 2/6 | Non-ΔGT mutation(s) |
| 10 | Obligate p47phox carrier | 429 | 2098 | 0.17 | 0.83 | 226 | 79 | 5.7 | 1.0 | 4.8 | 1/6 | Heterozygous ΔGT mutation |
| 11 | Obligate p47phox carrier | 646 | 1144 | 0.36 | 0.64 | 215 | 70 | 6.1 | 2.2 | 3.9 | 2/6 | Het non-ΔGT mutation |
| Row . | Diagnosis (a priori) . | No. of GTGT droplets . | No. of ΔGT droplets . | GTGT/(GTGT + ΔGT) . | ΔGT/(GTGT + ΔGT) . | No. of NCF1/NCF1B/NCF1C droplets . | No. of TERT droplets . | Total NCF1/NCF1B/NCF1C copies . | No. of GTGT copies . | No. of ΔGT copies . | GTGT copies/(GTGT + ΔGT) . | Predicted genotype . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Normal | 724 | 1416 | 0.34 | 0.66 | 271 | 92 | 5.9 | 2.0 | 3.9 | 2/6 | — |
| 2 | Normal | 212 | 436 | 0.33 | 0.67 | 212 | 74 | 5.7 | 1.9 | 3.9 | 2/6 | — |
| 3 | Normal | 362 | 358 | 0.50 | 0.50 | 201 | 70 | 5.7 | 2.8 | 2.8 | 3/6 | — |
| 4 | Normal | 535 | 267 | 0.67 | 0.33 | 227 | 78 | 5.9 | 3.9 | 2.0 | 4/6 | — |
| 5 | Normal | 555 | 1357 | 0.29 | 0.71 | 502 | 140 | 7.2 | 2.1 | 5.1 | 2/7 | — |
| 6 | p47phox CGD | 0 | 1080 | 0.00 | 1.0 | 5290 | 1793 | 6.0 | 0.0 | 6.0 | 0/6 | Homozygous ΔGT mutation |
| 7 | p47phox CGD | 0 | 2640 | 0.00 | 1.0 | 1921 | 637 | 6.0 | 0.0 | 6.0 | 0/6 | Homozygous ΔGT mutation |
| 8 | p47phox CGD | 852 | 4340 | 0.16 | 0.84 | 862 | 268 | 6.4 | 1.1 | 5.4 | 1/6 | Compound heterozygous for ΔGT and non-ΔGT mutations |
| 9 | p47phox CGD | 843 | 1731 | 0.33 | 0.67 | 127 | 42 | 6.0 | 2.0 | 4.1 | 2/6 | Non-ΔGT mutation(s) |
| 10 | Obligate p47phox carrier | 429 | 2098 | 0.17 | 0.83 | 226 | 79 | 5.7 | 1.0 | 4.8 | 1/6 | Heterozygous ΔGT mutation |
| 11 | Obligate p47phox carrier | 646 | 1144 | 0.36 | 0.64 | 215 | 70 | 6.1 | 2.2 | 3.9 | 2/6 | Het non-ΔGT mutation |