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NGS Pontocerebellar hypoplasia PCH

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)
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


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