Table 1.
Molecular testing of 1399 males suspected of having fragile X syndrome.
| Methylation (+) | Methylation (–) | |||||
|---|---|---|---|---|---|---|
| Screening PCR | SBH MB-PCR | SBH MB-PCR | ||||
| Venous blood | Strong | 219§ | 0 | 0 | 219 | 60 |
| Weak | 0 | |||||
| Failed | 10* | 10 | 10 | 0 | 0 | |
| Bloodspot | Strong | 1140 | ||||
| Weak # | 16* | 2 | 2 | 14 | 14 | |
| Failed # | 14* | 12 | 12 | 2 | 2 | |
| Total | 1399 | 24 | 24 | 235 | 76 | |
Methylation (+) and Methylation (–): presence and absence of methylated FMR1 promoter, respectively; SBH: Southern blot hybridization; MB-PCR: methyl-CpG-binding PCR; §: of which 60 cases were randomly selected for the blinded test; *: all cases included for the blinded test; #: SBH was performed using resubmitted venous blood samples.