Table 2 ddPCR and PNA–ddPCR results of 15 paired SWS patients.
Sample | Sample type | Mut copy number | Mut drop | Wt drop | ACD | FA (%) | deep–seq | PNA-ddPCR |
|---|---|---|---|---|---|---|---|---|
SWS1 | brain | 246.67 ( 9.29 ) | 138.33 ( 15.11 ) | 2188.00 ( 155.86 ) | 13208.33 ( 1009.30 ) | 5.50 ( 0.24 ) | 6.0 | + |
blood | 7.80 ( 4.82 ) | 4.33 ( 2.87 ) | 2520.67 ( 88.51 ) | 12677.67 ( 740.68 ) | 0.15 ( 0.10 ) | 0.03 | +new | |
SWS2 | brain | 80.67 ( 15.86 ) | 52.00 ( 8.60 ) | 1097.67 ( 13.47 ) | 15316.00 ( 839.64 ) | 4.37 ( 0.66 ) | 4.0 | + |
blood | 8.87 ( 5.01 ) | 5.33 ( 3.09 ) | 4008.33 ( 2093.11 ) | 13836.00 ( 611.36 ) | 0.11 ( 0.06 ) | 0.05 | +new | |
SWS3 | brain | 9.60 ( 3.37 ) | 4.67 ( 1.25 ) | 2876.67 ( 125.27 ) | 11946.33 ( 1546.93 ) | 0.14 ( 0.04 ) | 0.03 | +new |
blood | 1.53 ( 1.23 ) | 1.00 ( 0.82 ) | 3066.33 ( 166.55 ) | 14435.33 ( 873.95 ) | 0.04 ( 0.02 ) | 0.03 | − | |
SWS4 | brain | 11.33 ( 5.56 ) | 6.67 ( 3.86 ) | 2894.67 ( 128.23 ) | 13326.00 ( 1169.36 ) | 0.20 ( 0.11 ) | 0.16 | +new |
blood | 2.87 ( 2.29 ) | 2.00 ( 1.63 ) | 2356.33 ( 450.70 ) | 14885.67 ( 1623.49 ) | 0.11 ( 0.02 ) | 0.03 | − | |
SWS5 | brain | 222.67 ( 17.00 ) | 148.00 ( 15.12 ) | 2979.67 ( 215.29 ) | 15683.33 ( 423.06 ) | 4.33 ( 0.53 ) | 5.0 | NP |
blood | 4.73 ( 2.46 ) | 3.00 ( 1.63 ) | 5104.00 ( 1862.52 ) | 14706.33 ( 645.52 ) | 0.05 ( 0.04 ) | 0.04 | − | |
SWS6 | brain | 331.33 ( 10.50 ) | 207.67 ( 4.03 ) | 2772.33 ( 121.38 ) | 14858.67 ( 354.37 ) | 6.40 ( 0.22 ) | 6.0 | NP |
blood | 3.60 ( 1.88 ) | 2.33 ( 1.25 ) | 3423.67 ( 513.43 ) | 15444.00 ( 1326.28 ) | 0.06 ( 0.03 ) | 0.04 | − | |
SWS7 | brain | 177.33 ( 16.76 ) | 111.33 ( 13.89 ) | 2674.33 ( 173.12 ) | 14798.67 ( 634.96 ) | 3.63 ( 0.33 ) | 4.0 | NP |
blood | 1.60 ( 1.40 ) | 1.00 ( 0.82 ) | 4894.00 ( 2358.55 ) | 15173.67 ( 1153.39 ) | 0.03 ( 0.02 ) | 0.04 | − | |
SWS8 | brain | 295.33 ( 8.22 ) | 181.00 ( 7.12 ) | 2616.33 ( 124.93 ) | 14501.33 ( 320.86 ) | 5.97 ( 0.12 ) | 6.0 | + |
saliva | 51.33 ( 5.25 ) | 35.33 ( 4.78 ) | 4856.33 ( 533.45 ) | 16400.33 ( 1350.59 ) | 0.61 ( 0.06 ) | 0.44 | + | |
SWS9 | brain | 346.00 ( 17.05 ) | 178.00 ( 7.26 ) | 2339.00 ( 69.37 ) | 12196.67 ( 828.45 ) | 6.47 ( 0.09 ) | 8.0 | NP |
blood | 1.07 ( 0.75 ) | 0.67 ( 0.47 ) | 3111.00 ( 107.34 ) | 14228.33 ( 241.84 ) | 0.02 ( 0.01 ) | 0.03 | − | |
SWS10 | brain | 420.00 ( 41.09 ) | 232.00 ( 19.44 ) | 2565.00 ( 166.28 ) | 13152.67 ( 250.69 ) | 7.60 ( 0.08 ) | 8.0 | NP |
blood | 3.40 ( 2.70 ) | 1.67 ( 1.25 ) | 2381.67 ( 237.10 ) | 12761.67 ( 1533.49 ) | 0.07 ( 0.05 ) | 0.04 | − | |
SWS11 | brain | 4.60 ( 3.15 ) | 2.67 ( 1.70 ) | 2894.00 ( 226.81 ) | 14169.33 ( 1065.11 ) | 0.09 ( 0.06 ) | 0.03 | − |
blood | 0.00 ( 0 ) | 0.00 ( 0 ) | 1078.33 ( 379.28 ) | 13129.00 ( 915.10 ) | 0.00 ( 0 ) | 0.03 | − | |
SWS12 | brain | 136.67 ( 12.26 ) | 73.00 ( 20.22 ) | 2320.67 ( 629.80 ) | 12492.67 ( 2597.01 ) | 2.80 ( 0.08 ) | 4.0 | NP |
blood | 0.87 ( 1.23 ) | 0.33 ( 0.47 ) | 1372.33 ( 544.09 ) | 10545.00 ( 2524.01 ) | 0.03 ( 0.04 ) | 0.04 | − | |
SWS13 | brain | 170.67 ( 29.23 ) | 87.67 ( 10.62 ) | 2099.00 ( 302.03 ) | 12690.00 ( 3164.55 ) | 3.70 ( 0.08 ) | 4.0 | NP |
blood | 3.67 ( 3.30 ) | 2.33 ( 2.05 ) | 2414.67 ( 78.47 ) | 14800.00 ( 921.06 ) | 0.09 ( 0.08 ) | 0.03 | − | |
SWS14 | brain | 66.67 ( 4.11 ) | 43.00 ( 3.56 ) | 481.67 ( 24.64 ) | 15137.67 ( 854.48 ) | 8.07 ( 0.29 ) | 9.0 | NP |
blood | 1.60 ( 1.23 ) | 1.00 ( 0.82 ) | 2086.67 ( 108.02 ) | 14751.33 ( 1099.24 ) | 0.04 ( 0.03 ) | 0.04 | − | |
SWS15 | brain | 94.00 ( 21.42 ) | 55.33 ( 4.64 ) | 1485.67 ( 112.35 ) | 14378.33 ( 2276.07 ) | 3.43 ( 0.45 ) | 4.0 | NP |
blood | 3.27 ( 1.23 ) | 2.00 ( 0.82 ) | 2560.33 ( 131.76 ) | 14101.00 ( 846.50 ) | 0.07 ( 0.02 ) | 0.03 | − |
