Newborn | Detection by Sanger sequencing | Detection by PEARS-101 test | ||
---|---|---|---|---|
Gene variant | Predicted amino acid change | Primary variants | Secondary variants | |
GD-1 | c.331C > T (PAH) | p.R111X | c.331C > T (PAH) | c.1562G > C (ALDH4A1) c.1001G > T (ETFA) c.814G > A (PEX1) c.367G > T (PHYH) |
c.442-1G > A (PAH) | No change | c.442-1G > A (PAH) | ||
GD-2 | c.166G > A (PTS) | p.V56 M | c.166G > A (PTS) | c.1111delC (HGD) |
c.286G > A (PTS) | p.D96N | c.286G > A (PTS) | ||
GD-3 | c.441 + 3G > C (PAH) | No change | c.441 + 3G > C (PAH) | c.1367G > A (GLDC) |
GD-4 | c.728G > A (PAH) | p.R243Q | c.728G > A (PAH) | c.496A > G (DPYD) c. 1027A > C (HGD) c.1574 T > C (TSHR) |
GD-5 | c.1741C > T (MUT) | p.R581X | c.1741C > T (MUT) | c.2194G > A (DPYD) c.443A > G (HMGCL) c.613A > G (GALT) |
GD-6 | c.164C > T (ACADS) | p.P55L | c.164C > T (ACADS) | None |
GD-7 | c.66A > G (ACADS) | p.W22X | c.66A > G (ACADS) | c.512G > A (GRHPR) c.158G > A (PAH) c.608 T > C (SARDH) c.1229G > A (SLC22A5) |
GD-8 | c.66A > G (ACADS) | p.W22X | c.66A > G (ACADS) | c.1229G > A (SLC22A5) |