| Panel name | NGS Porencephaly and other COL4A1-related disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5 |
| Panel quality *** | A/C |
| Core-NL | 2 core-NL genes included |
| CNV analysis | No |
| Location | Location VUmc |
| Genes (3) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| COL4A1 | A | 100 | 100 | core-NL | |
| COL4A2 | A | 100 | 100 | core-NL | |
| COLGALT1 | C |
| Indication(s) |
|---|
| Angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) |
| Brain small vessel disease with or without eye abnormalities |
| Porencephaly |
** 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