| Panel naam | NGS Marfan syndroom en andere marfanachtige beelden |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | v5.0 |
| Panel kwaliteit *** | A/C |
| Core-NL | 13 core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie VUmc |
| Genen (29) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABL1 | C | 100 | 100 | ||
| AEBP1 | |||||
| ASPH | |||||
| BGN | A | 100 | 100 | core-NL | |
| CBS | A | 100 | 100 | core-NL | |
| COL3A1 | A | 100 | 100 | core-NL | |
| EFEMP1 | C | 100 | 100 | ||
| EFEMP2 | |||||
| EMILIN1 | C | 100 | 100 | ||
| FBN1 | A | 100 | 100 | core-NL | |
| FBN2 | A | 100 | 100 | core-NL | |
| FKBP14 | C | 100 | 100 | ||
| IPO8 | C | 100 | 100 | ||
| LOX | A | 100 | 100 | core-NL | |
| LTBP3 | A | 100 | 100 | core-NL | |
| MFAP5 | C | 100 | 100 | ||
| NPR2 | C | 100 | 100 | ||
| NPR3 | C | 100 | 100 | ||
| PLOD1 | C | 100 | 100 | ||
| PMEPA1 | C | 100 | 100 | ||
| SKI | C | 100 | 100 | ||
| SLC2A10 | C | 100 | 100 | ||
| SMAD2 | A | 100 | 100 | core-NL | |
| SMAD3 | A | 100 | 100 | core-NL | |
| TGFB2 | A | 100 | 100 | core-NL | |
| TGFB3 | A | 100 | 100 | core-NL | |
| TGFBR1 | A | 100 | 100 | core-NL | |
| TGFBR2 | A | 100 | 100 | core-NL | |
| THSD4 | C | 100 | 100 |
| Indicatie(s) |
|---|
| Arterial tortuosity syndroom |
| Congenitale contracturale arachnodactylie |
| Ehlers-Danlos syndroom vasculaire type |
| Loeys-Dietz syndroom (LDS) |
| Marfan syndroom |
| Shprintzen-Goldberg syndroom |
** 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