Skip to main content

Table 1 Validation of the PEARS-101 test using newborn genomic DNA samples with known IEM gene variants

From: A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

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)

  1. GD Genomic DNA. All mutations detected by PEARS-101 were confirmed by PCR Sanger sequencing (Additional file 3: Figure S2, Additional file 4: Figure S3)