| Panel name | NGS Linkeropathies and related disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5.0 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (16) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| B3GALT6 | C | 100 | 100 | ||
| B3GAT3 | C | 100 | 100 | ||
| B4GALT7 | C | 100 | 100 | ||
| CANT1 | C | 100 | 100 | ||
| CHST3 | C | 100 | 100 | ||
| CSGALNACT1 | C | 100 | 100 | ||
| FLNB | C | 100 | 100 | ||
| GORAB | C | 100 | 100 | ||
| GZF1 | C | 100 | 100 | ||
| KIF22 | C | 100 | 100 | ||
| P4HA1 | C | 100 | 100 | ||
| PIEZO2 | C | 100 | 100 | ||
| PLOD3 | C | 100 | 100 | ||
| SKI | C | 100 | 100 | ||
| XYLT1 | C | 100 | 100 | ||
| XYLT2 | C | 100 | 100 |
| Indication(s) |
|---|
| Larsen syndrome |
| Linkeropathies |
| Lysyl Hydroxylase 3 deficiency LH3 |
| Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects |
| Spondyloepiphyseal dysplasia with congenital joint dislocations |
** 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