| Panel naam | EpiSign compleet – geen late onset |
|---|---|
| Panel methode | EpiSign |
| Panel versie ** | v4 |
| Panel kwaliteit *** | |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (71) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ADNP | |||||
| ANKRD11 | |||||
| ARID1A | |||||
| ARID1B | |||||
| ATRX | |||||
| BRWD3 | |||||
| CCNK | |||||
| CDCA7 | |||||
| CDK13 | |||||
| CDKN1C | |||||
| CHD2 | |||||
| CHD4 | |||||
| CHD7 | |||||
| CHD8 | |||||
| CREBBP | |||||
| DIP2B | |||||
| DNMT3A | |||||
| DNMT3B | |||||
| EED | |||||
| EHMT1 | |||||
| EP300 | |||||
| EZH2 | |||||
| FAM50A | |||||
| FMR1 | |||||
| FRA12A | |||||
| GNAS | |||||
| H1-4 | |||||
| H19 | |||||
| HELLS | |||||
| KANSL1 | |||||
| KAT6A | |||||
| KAT6B | |||||
| KCNQ1OT1 | |||||
| KDM2B | |||||
| KDM5C | |||||
| KDM6A | |||||
| KMT2A | |||||
| KMT2B | |||||
| KMT2D | |||||
| KMT5B | |||||
| MEG3 | |||||
| NIPBL | |||||
| NSD1 | |||||
| NSD2 | |||||
| PHF6 | |||||
| PLAG1 | |||||
| POGZ | |||||
| PQBP1 | |||||
| RAD21 | |||||
| SETD1B | |||||
| SETD2 | |||||
| SETD5 | |||||
| SIN3A | |||||
| SLC32A1 | |||||
| SMARCA2 | |||||
| SMARCA4 | |||||
| SMARCB1 | |||||
| SMC1A | |||||
| SMC3 | |||||
| SMS | |||||
| SNRPN | |||||
| SNURF | |||||
| SOX11 | |||||
| SRCAP | |||||
| TET3 | |||||
| UBE2A | |||||
| XXYLT1 | |||||
| YY1 | |||||
| ZBTB24 | |||||
| ZC4H2 | |||||
| ZNF711 |
| Indicatie(s) |
|---|
** 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