Table 3.
SCID NBS TREC levels and genetic evaluation results.
| Pt 1 | Pt 2 | Pt 3 | Pt 4 | |
|---|---|---|---|---|
| TRECs (copies/ 3 μL DNA) (cut-off >75 copies/3 μL) |
22 | 23 | 26 | 41 |
| WES/Sanger sequencing | c.331+1G>A; c.6095G>A |
c.170G>A c.6997dupA |
c.6679C>T c.7090-1G>A |
c.5228C>T c.6908dupA |
| Affected region | FAT domain HEAT repeats |
FAT domain HEAT repeats |
FAT domain FAT domain |
FAT domain FAT domain |
| G-band analysis assay | Positive | Positive | Positive | Positive |
Bold text indicates values that fall outside of the reference range.