| Panel name | NGS Stickler syndrome and related disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v4.0 |
| Panel quality *** | A/C |
| Core-NL | 6 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (17) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| BMP4 | C | 100 | 100 | ||
| COL11A1 | A | 100 | 100 | core-NL | |
| COL11A2 | A | 100 | 100 | core-NL | |
| COL2A1 | A | 100 | 100 | core-NL | |
| COL9A1 | A | 100 | 100 | core-NL | |
| COL9A2 | A | 100 | 100 | core-NL | |
| COL9A3 | A | 100 | 100 | core-NL | |
| GZF1 | C | 100 | 100 | ||
| KCNJ13 | C | 100 | 100 | ||
| LOXL3 | C | 100 | 100 | ||
| LRP2 | C | 100 | 100 | ||
| P3H2 | C | 100 | 100 | ||
| PLOD3 | C | 100 | 100 | ||
| SLC26A2 | C | 100 | 100 | ||
| SLITRK6 | C | 100 | 100 | ||
| VCAN | C | 100 | 100 | ||
| XYLT2 | C | 100 | 100 |
| Indication(s) |
|---|
| Bruck syndrome |
| Kniest dysplasia |
| Marshall syndrome |
| Multiple epiphyseal dysplasia |
| Otospondylomegaepiphyseal dysplasia |
| Spondyloepiphyseal dysplasia with congenital joint dislocations |
| Stickler syndrome |
| Wagner syndrome |
| Weissenbacher-Zweymuller syndrome |
** 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