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 | Nee |
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