| Panel naam | NGS Obesitas |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | OBSv4 |
| Panel kwaliteit *** | A |
| 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 (17) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ADCY3 | A | 100.0 | 100.0 | ||
| BDNF | A | 100.0 | 100.0 | ||
| CPE | A | 100.0 | 100.0 | ||
| GNAS | A | 100.0 | 100.0 | ||
| GNB1 | A | 100.0 | 100.0 | ||
| KSR2 | A | 100.0 | 100.0 | ||
| LEP | A | 100.0 | 100.0 | ||
| LEPR | A | 100.0 | 100.0 | ||
| MAGEL2 | A | 100.0 | 100.0 | ||
| MC3R | A | 100.0 | 100.0 | ||
| MC4R | A | 100.0 | 100.0 | ||
| MRAP2 | A | 100.0 | 100.0 | ||
| PCSK1 | A | 100.0 | 100.0 | ||
| POMC | A | 100.0 | 100.0 | ||
| SETD1B | A | 100.0 | 100.0 | ||
| SH2B1 | A | 100.0 | 100.0 | ||
| SIM1 | A | 100.0 | 100.0 |
| 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