| Panel name | NGS Cowden syndrome |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | COWv4 |
| Panel quality *** | A |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Location | Location AMC |
| Genes (6) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| AKT1 | A | 100.00 | 100.00 | ||
| KLLN | A | 100.00 | 100.00 | ||
| PIK3CA | A | 100.00 | 100.00 | ||
| PTEN | A | 100.00 | 100.00 | ||
| SDHB | A | 100.00 | 100.00 | ||
| SDHD | A | 100.00 | 100.00 |
| Indication(s) |
|---|
| Cowden syndrome |
** 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