Panel name | NGS Obesitome |
---|---|
Panel method | Targeted NGS |
Panel version ** | OBSv4 |
Panel quality *** | A |
Core-NL | No core-NL genes included |
CNV analysis | Yes |
Note | incl. CNV analysis entire 16p11.2 region (ATXNL2L, QPRT, MAZ, KCTD13, PPP4C) |
Location | Location AMC |
Genes (17) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
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 |
Indication(s) |
---|
Obesity |
** 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