| Panel name | NGS Lens luxation and related syndromes |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5.0 |
| Panel quality *** | A/C |
| Core-NL | 4 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (10) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ADAMTS10 | C | 100 | 100 | ||
| ADAMTS17 | C | 100 | 100 | ||
| ADAMTSL4 | A | 100 | 100 | core-NL | |
| ASPH | C | 100 | 100 | ||
| CBS | A | 100 | 100 | core-NL | |
| COL18A1 | C | 100 | 100 | ||
| CPAMD8 | C | 100 | 100 | ||
| FBN1 | A | 100 | 100 | core-NL | |
| LTBP2 | A | 100 | 100 | core-NL | |
| P3H2 | C | 100 | 100 |
| Indication(s) |
|---|
| Ectopia lentis |
| Geleophysic dysplasia |
| Lens luxation |
| Marfan syndrome |
| Marfan syndrome |
| Weill-Marchesani 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