| Panel name | NGS Hemophagocytic syndrome (HLH) |
|---|---|
| Panel method | WES-based NGS |
| Panel version ** | HLHv1 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Location | Location AMC |
| Genes (10) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| AP3B1 | C | 99.99 | 100.00 | NM_003664.5 | |
| LYST | C | 100.00 | 100.00 | NM_000081.4 | |
| PRF1 | C | 100.00 | 100.00 | NM_001083116.3 | |
| RAB27A | C | 100.00 | 100.00 | NM_183235.3 | |
| RC3H1 | C | 99.98 | 100.00 | NM_172071.4 | |
| SH2D1A | C | 99.9 | 100.00 | NM_002351.5 | |
| STX11 | C | 100.00 | 100.00 | NM_003764.4 | |
| STXBP2 | C | 100.00 | 100.00 | NM_006949.4 | |
| UNC13D | C | 99.99 | 100.00 | NM_199242.3 | |
| XIAP | C | 100.00 | 100.00 | NM_001167.4 |
| Indication(s) |
|---|
| Hemophagocytic syndrome HLH |
** 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