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) |
Location | Location AMC |
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