Comparison of detection of methylation changes between targeted DNA methylation testing and single sample analysis. Column headers indicate the loci tested and their genomic locations. Rows denote targeted testing (TT) and single sample analysis (450 k) results of individual patients, grouped by their presenting disorder. The DNA methylation at differentially methylated loci was estimated by methylation-specific PCR (msPCR) in TT. A methylation ratio of 1 is equivalent to hemizygous methylation, as seen in normal controls; a ratio of 2 indicates two-fold excess of unmethylated over methylated template; ‘Total’ indicates no detectable methylated sequences. The intensity of blue shading reflects the severity of hypomethylation. A dash indicates no data, normally because insufficient DNA prevented completion of all testing. For 450 k, the P values have been determined by Fisher’s combined P value method for independent tests. The ∞ symbol means no significant methylation changes were detected at that region and 0 is yielded while the P value is too small (<10−350). BWS-MLMD, Beckwith-Wiedemann syndrome-multi-locus methylation disorders; TND-MLMD, transient neonatal diabetes-multi-locus methylation disorders.