| Panel name | NGS Ehlers-Danlos syndromes |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5.0 |
| Panel quality *** | A/C |
| Core-NL | 11 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (25) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ADAMTS2 | C | 100 | 100 | ||
| AEBP1 | A | 100 | 100 | ||
| B3GALT6 | C | 100 | 100 | ||
| B4GALT7 | C | 100 | 100 | ||
| C1R | A | 100 | 100 | core-NL | |
| C1S | A | 100 | 100 | core-NL | |
| CHST14 | A | 100 | 100 | ||
| COL12A1 | A | 100 | 100 | core-NL | |
| COL1A1 | A | 100 | 100 | core-NL | |
| COL1A2 | A | 100 | 100 | core-NL | |
| COL3A1 | A | 100 | 100 | core-NL | |
| COL5A1 | A | 100 | 100 | core-NL | |
| COL5A2 | A | 100 | 100 | core-NL | |
| DSE | C | 100 | 100 | ||
| FBN1 | A | 100 | 100 | core-NL | optioneel |
| FKBP14 | C | 100 | 100 | core-NL | |
| FLNA | 100 | 100 | optioneel | ||
| MAP3K7 | C | 100 | 100 | optioneel | |
| PLOD1 | A | 100 | 100 | ||
| PRDM5 | C | 100 | 100 | ||
| SLC39A13 | C | 100 | 100 | ||
| TAB2 | C | 100 | 100 | optioneel | |
| THBS2 | |||||
| TNXB | A | 100 | 100 | core-NL | |
| ZNF469 | C | 100 | 100 |
| Indication(s) |
|---|
| Brittle cornea syndrome |
| Ehlers-Danlos syndrome EDS |
| Ehlers-Danlos syndrome vascular type |
** 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