High accuracy genotyping directly from genomic DNA using a rolling circle amplification based assay

BMC Genomics

Table 2 Table of patient sample numbers and genotyping accuracy.

Assay	Number of Individual Samples Mutant:Hetero:Normal	Single Assay Accuracy	Observed Assay Accuracy in Triplicate
Factor V Leiden	13:98:105	99.5%	100%
Hemochromatosis C282Y	13:93:84	99.5%	100%
Hemochromatosis H63D	1:48:89	99.5%	100%
Factor II Prothrombin	2:12:284	99.4%	100%

For each of the assays (column 1) the number of different samples screened are grouped according to genotype (column 2). Mutant (homozygous mutant), heterozygous, normal (homozygous normal). The accuracy obtained for each single genotyping assay is shown in column three. The observed genotyping accuracy for the samples as tested in triplicate is shown in column four.

ISSN: 1471-2164