| Panel name | NGS Cutis laxa and related disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5.0 |
| Panel quality *** | A/C |
| Core-NL | 1 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (17) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ALDH18A1 | C | 100 | 100 | ||
| ATP6V0A2 | C | 100 | 100 | ||
| ATP6V1A | C | 100 | 100 | ||
| ATP6V1E1 | C | 100 | 100 | ||
| ATP7A | C | 100 | 100 | ||
| EFEMP1 | |||||
| EFEMP2 | C | 100 | 100 | ||
| ELN | A | 100 | 100 | core-NL | |
| EMILIN1 | C | 100 | 100 | ||
| FBLN5 | C | 100 | 100 | ||
| GORAB | C | 100 | 100 | ||
| LOX | |||||
| LTBP1 | |||||
| LTBP4 | C | 100 | 100 | ||
| PYCR1 | C | 100 | 100 | ||
| RIN2 | C | 100 | 100 | ||
| SLC2A10 | C | 100 | 100 |
| Indication(s) |
|---|
| Arterial tortuosity syndrome |
| Cutis laxa |
** 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