Panel name | PCH Volendam founder mutation |
---|---|
Panel method | Sanger sequencing |
Panel version ** | v1 |
Panel quality *** | |
CNV analysis | No |
Location | Location AMC |
Genes (1) | Quality | Note |
---|---|---|
TSEN54 |
Indication(s) |
---|
Pontocerebellar hypoplasia PCH |
** 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