MLPA detects all SVs affecting SERPINC1 exons regardless of their type (deletion or duplication) [12], but this method does not detect SVs affecting introns of this gene, such as deletions [8], or retrotransposon insertions [9], despite the fact that these defects also cause antithrombin deficiency. This evidence concerns the gene SERPINC1 and hereditary antithrombin deficiency.