Panel name | NGS Pontocerebellar hypoplasia PCH |
---|---|
Panel method | WES-based NGS |
Panel version ** | |
Panel quality *** | |
Core-NL | No core-NL genes included |
CNV analysis | No |
Note | Coverage gegevens volgen nog. |
Location | Location AMC |
Genes (37) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
AMPD2 | |||||
ATXN2 | |||||
ATXN7 | |||||
CASK | |||||
CHMP1A | |||||
CLP1 | |||||
CRPPA | |||||
DKC1 | |||||
EXOSC3 | |||||
EXOSC8 | |||||
EXOSC9 | |||||
FKRP | |||||
FKTN | |||||
ITPR1 | |||||
LARGE1 | |||||
PCLO | |||||
PMM2 | |||||
POMGNT1 | |||||
POMT1 | |||||
POMT2 | |||||
RARS2 | |||||
RELN | |||||
SEPSECS | |||||
TBC1D23 | |||||
TOE1 | |||||
TSEN15 | |||||
TSEN2 | |||||
TSEN34 | |||||
TSEN54 | |||||
TUBA1A | |||||
TUBA8 | |||||
TUBB | |||||
TUBB2B | |||||
TUBB3 | |||||
VLDLR | |||||
VPS53 | |||||
VRK1 |
Indication(s) |
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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