NGS Pontocerebellaire hypoplasie PCH

Panel naam	NGS Pontocerebellaire hypoplasie PCH
Panel methode	Wes-based NGS
Panel versie **
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC

Genen (37)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
AMPD2	C	99.67	99.98		NM_001368809.2
ATXN2	C	99.31	99.89		NM_001372574.1
ATXN7	C	98.08	99.41		NM_001377405.1
CASK	C	99.99	100.00		NM_001367721.1
CHMP1A	C	100.00	100.00		NM_002768.5
CLP1	C	100.00	100.00		NM_006831.3
CRPPA	C	100.00	100.00		NM_001101426.4
DKC1	C	99.7	99.92		NM_001363.5
EXOSC3	C	100.00	100.00		NM_016042.4
EXOSC8	C	100.00	100.00		NM_181503.3
EXOSC9	C	99.82	99.91		NM_005033.3
FKRP	C	100.00	100.00		NM_024301.5
FKTN	C	100.00	100.00		NM_001079802.2
ITPR1	C	100.00	100.00		NM_001378452.1
LARGE1	C	100.00	100.00		NM_133642.5
PCLO	C	99.68	99.86		NM_033026.6
PMM2	C	100.00	100.00		NM_000303.3
POMGNT1	C	99.89	99.99		NM_017739.4
POMT1	C	100.00	100.00		NM_001077365.2
POMT2	C	100.00	100.00		NM_013382.7
RARS2	C	99.97	100.00		NM_020320.5
RELN	C	100.00	100.00		NM_005045.4
SEPSECS	C	99.93	99.99		NM_016955.4
TBC1D23	C	99.96	100.00		NM_001199198.3
TOE1	C	100.00	100.00		NM_025077.4
TSEN15	C	99.86	99.94		NM_052965.4
TSEN2	C	100.00	100.00		NM_025265.4
TSEN34	C	100.00	100.00		NM_001077446.4
TSEN54	C	99.66	99.92		NM_207346.3
TUBA1A	C	100.00	100.00		NM_006009.4
TUBA8	C	100.00	100.00		NM_018943.3
TUBB	C	100.00	100.00		NM_178014.4
TUBB2B	C	82.37	85.8		NM_178012.5
TUBB3	C	100.00	100.00		NM_006086.4
VLDLR	C	100.00	100.00		NM_003383.5
VPS53	C	100.00	100.00		NM_001128159.3
VRK1	C	100.00	100.00		NM_003384.3

Indicatie(s)
Pontocerebellaire hypoplasie PCH

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C