| Panel name | Methylation Chr.11p15 (KCNQ1OT1 & H19) |
|---|---|
| Panel method | MeMLPA |
| Panel version ** | None |
| Panel quality *** | A |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Mosaic detection | Yes |
| Note | Methylerings- en CNV analyse 11p15 (KCNQ1OT1 & H19, MLPA ME030) |
| Genes (2) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| H19 | A | ||||
| KCNQ1OT1 | A |
| Indication(s) |
|---|
| Beckwith-Wiedemann syndrome BWS |
| Hemihypertrophy / Hemihyperplasia |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C