| Panel naam | NGS Polyposis |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | PPv8 |
| Panel kwaliteit *** | A |
| Core-NL | 9 core-NL genen inbegrepen |
| CNV analyse | Ja |
| Notitie | CDH1 Optional |
| Locatie | Locatie AMC |
| Genen (25) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| 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 | A | 100.00 | 100.00 | ||
| 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 |
| Indicatie(s) |
|---|
| Adenomateuze polyposis FAP |
| Juveniele polyposis syndroom JPS |
| Lynch syndroom HNPCC |
| Multiple colorectale adenomas |
| Polyposis |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C