| Panel name | NGS Marfan syndrome and marfan-like disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5.0 |
| Panel quality *** | A/C |
| Core-NL | 13 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (29) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| 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 |
| Indication(s) |
|---|
| Arterial tortuosity syndrome |
| Congenital contractural arachnodactyly |
| Ehlers-Danlos syndrome vascular type |
| Loeys-Dietz syndrome (LDS) |
| Marfan syndrome |
| Shprintzen-Goldberg 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