Table 3.
Results displaying the VAF percentages of amplicon NGS and ddPCR analyses performed on different somatic tissue samples from parents suspected of low-level mosaicism
| Parent | Gene | Variant | Blood | Buccal | Saliva | Urine | Hair | Nails | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ES (%) | PCR NGS (%) | ddPCR | PCR NGS | ddPCR | PCR NGS | ddPCR | PCR NGS | ddPCR | PCR NGS | PCR NGS | |||
| M1 | USP7 | c.238A > T | 3 | 9 | 2.13% | 1% | 0.3% | 8% | 4.78% | 2% | 0.86% | 0.03% | 5% |
| M2 | PTPN11 | c.923A > G | 1 | 0.3 | ND | 0.21% | ND | 0.1% | NT | 0.22% | NT | 0.15% | NA |
| M3 | PTPN11 | c.923A > G | 1 | 0.3 | DEG | 0.2% | ND | 0.2% | NT | 0.2% | NT | NA | NA |
| M4 | COL11A1 | c.3816 + 2dupT | 2.8 | 0.2 (HC) | ND | ND | ND | ND | DEG | ND | ND | ND | ND |
| M5 | CACNA1C | c.694G > C | 1 | 2 | ND | ND | ND | ND | 0.2% | ND | 0.2% | 0.05% | ND |
HC GATK haplotype caller, NA not accountable, ND not detectable, NT not tested, DEG degraded DNA