| Panel naam | NGS Obesitas |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | OBSv5 / OBStypeAv2 |
| Panel kwaliteit *** | A/C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Notitie | incl. CNV analysis entire 16p11.2 region (ATXNL2L, QPRT, MAZ, KCTD13, PPP4C) |
| Locatie | Locatie AMC |
| Genen (27) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ADCY3 | A | 100 | 100 | ||
| BDNF | A | 100 | 100 | ||
| CPE | A | 100 | 100 | ||
| DNMT3A | A | 100 | 100 | ||
| GNAS | A | 100 | 100 | ||
| GNB1 | A | 100 | 100 | ||
| KSR2 | A | 100 | 100 | ||
| LEP | A | 100 | 100 | ||
| LEPR | A | 100 | 100 | ||
| MAGEL2 | A | 100 | 100 | ||
| MC3R | A | 100 | 100 | ||
| MC4R | A | 100 | 100 | ||
| MRAP2 | A | 100 | 100 | ||
| NCOA1 | A | 100 | 100 | ||
| NTRK2 | A | 100 | 100 | ||
| P4HTM | C | 99.98 | 100 | ||
| PCSK1 | A | 100 | 100 | ||
| PDE4D | C | 99.64 | 99.88 | ||
| PHIP | C | 97.64 | 97.74 | ||
| POMC | A | 100 | 100 | ||
| PRKAR1A | A | 100 | 100 | ||
| PTER | A | 100 | 100 | ||
| RAD21 | A | 100 | 100 | ||
| SETD1B | C | 99.50 | 99.82 | ||
| SH2B1 | A | 100 | 100 | ||
| SIM1 | A | 100 | 100 | ||
| STX16 | C | CNV analysis only |
| Indicatie(s) |
|---|
| Obesitas |
** 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