Table 1.

Representative ddPCR analyses of NCF1 in gDNA from normal subjects and CGD patients and carriers

RowDiagnosis (a priori)No. of GTGT dropletsNo. of ΔGT dropletsGTGT/(GTGT + ΔGT)ΔGT/(GTGT + ΔGT)No. of NCF1/NCF1B/NCF1C dropletsNo. of TERT dropletsTotal NCF1/NCF1B/NCF1C copiesNo. of GTGT copiesNo. of ΔGT copiesGTGT copies/(GTGT + ΔGT)Predicted genotype
1Normal72414160.340.66271925.92.03.92/6
2Normal2124360.330.67212745.71.93.92/6
3Normal3623580.500.50201705.72.82.83/6
4Normal5352670.670.33227785.93.92.04/6
5Normal55513570.290.715021407.22.15.12/7
6p47phox CGD010800.001.0529017936.00.06.00/6Homozygous ΔGT mutation
7p47phox CGD026400.001.019216376.00.06.00/6Homozygous ΔGT mutation
8p47phox CGD85243400.160.848622686.41.15.41/6Compound heterozygous for ΔGT and non-ΔGT mutations
9p47phox CGD84317310.330.67127426.02.04.12/6Non-ΔGT mutation(s)
10Obligate p47phox carrier42920980.170.83226795.71.04.81/6Heterozygous ΔGT mutation
11Obligate p47phox carrier64611440.360.64215706.12.23.92/6Het non-ΔGT mutation