Table 1.

Validation of AlphaScreen Allele-Specific Amplification

SNP marker Alternative genotyping method Number of samples tested Correct genotypes
NCBI assay Id 4621Sequencing2020
NCBI assay Id 4568Sequencing2020
NCBI assay Id 394Sequencing1717
NCBI assay Id 5173Sequencing2020
NCBI assay Id 336Sequencing2020
CDC45L [i] Single-strand conformation polymorphism2222
TBX1 [ii] Single-strand conformation polymorphism2120
WIAF-37105′-nuclease assay (TaqMan probes)4141
WIAF-3955′-nuclease assay (TaqMan probes)4444
WIAF-9855′-nuclease assay (TaqMan probes)4545
WIAF-8965′-nuclease assay (TaqMan probes)4442
WIAF-3325′-nuclease assay (TaqMan probes)4444
Total 358 355 (99.2%)

[i] CDC45L: exon 18, G to A transition.

[ii] TBX1: exon 2, G to C transversion.