| Panel naam | NGS Ehlers-Danlos syndromen |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | v5.0 |
| Panel kwaliteit *** | A/C |
| Core-NL | 11 core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie VUmc |
| Genen (25) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| 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 |
| Indicatie(s) |
|---|
| Brittle cornea syndroom |
| Ehlers-Danlos syndroom EDS |
| Ehlers-Danlos syndroom vasculaire type |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C