| Panel name | NGS Colorectal cancer panel polyposis |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | PPv8 |
| Panel quality *** | A |
| Core-NL | 9 core-NL genes included |
| CNV analysis | Yes |
| Note | CDH1 Optional |
| Location | Location AMC |
| Genes (25) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| APC | A | 100.00 | 100.00 | core-NL | Core-NL Polyposis |
| AXIN2 | A | 100.00 | 100.00 | ||
| BMPR1A | A | 100.00 | 100.00 | core-NL | Core-NL Juvenile Polyposis |
| CDH1 | A | 100.00 | 100.00 | Analyse optioneel, svp aangeven bij aanvraag | |
| CTNNA1 | 100 | 100 | |||
| EPCAM | A | 100.00 | 100.00 | core-NL | Core-NL Lynch syndroom |
| GREM1 | A | 100.00 | 100.00 | ||
| MBD4 | A | 100.00 | 100.00 | ||
| MCM9 | A | 100.00 | 100.00 | ||
| MLH1 | A | 100.00 | 100.00 | core-NL | Core-NL Lynch syndroom |
| MLH3 | A | 100.00 | 100.00 | ||
| MSH2 | A | 100.00 | 100.00 | core-NL | Core-NL Lynch syndroom |
| MSH3 | A | 100.00 | 100.00 | ||
| MSH6 | A | 100.00 | 100.00 | core-NL | Core-NL Lynch syndroom |
| MUTYH | A | 100.00 | 100.00 | core-NL | Core-NL Polyposis |
| NTHL1 | A | 100.00 | 100.00 | ||
| PMS2 | A | 100.00 | 100.00 | core-NL | Core-NL Lynch syndroom |
| POLD1 | A | 100.00 | 100.00 | ||
| POLE | A | 100.00 | 100.00 | ||
| PTEN | A | 100.00 | 100.00 | ||
| RNF43 | A | 100.00 | 100.00 | ||
| SMAD4 | A | 100.00 | 100.00 | core-NL | Core-NL Juvenile Polyposis |
| STK11 | A | 100.00 | 100.00 | ||
| TSC1 | A | 100.00 | 100.00 | ||
| TSC2 | A | 100.00 | 100.00 |
| Indication(s) |
|---|
| Adenomas multiple colorectal |
| Familial adenomatous polyposis FAP |
| Familial nonpolyposis colon cancer / Lynch syndrome HNPCC |
| Juvenile polyposis syndrome JPS |
| Polyposis |
** 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