Panel naam | NGS Dominante opticus atrofie |
---|---|
Panel methode | Wes-based NGS |
Panel versie ** | AlbGOAv4 / DOAv2 |
Panel kwaliteit *** | C |
Core-NL | Geen core-NL genen inbegrepen |
CNV analyse | Ja |
Locatie | Locatie AMC |
Genen (34) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
---|---|---|---|---|---|
ACO2 | C | 100.0 | 100.0 | ||
AFG3L2 | C | 100 | 100 | ||
AUH | C | 100.0 | 100.0 | ||
C19orf12 | C | 100 | 100 | ||
CISD2 | C | 100.0 | 100.0 | ||
DNAJC30 | C | 100 | 100 | ||
DNM1L | C | 99 | 100 | ||
HMBS | C | 100 | 100 | ||
KIF7 | C | 100 | 100 | ||
MFN2 | C | 100.0 | 100.0 | ||
MIEF1 | C | 100 | 100 | ||
MTPAP | C | 100.0 | 100.0 | ||
MTRFR | unknown | ||||
NBAS | C | 100.0 | 100.0 | ||
NDUFAF5 | unknown | ||||
NDUFS1 | C | 100.0 | 100.0 | ||
NDUFS2 | C | 100 | 100 | ||
NDUFS3 | C | 100 | 99 | ||
NR2F1 | C | 93 | 97 | ||
OPA1 | C | 100.0 | 100.0 | ||
OPA3 | C | 100.0 | 100.0 | ||
RTN4IP1 | C | 100.0 | 100.0 | ||
SDHA | C | 100 | 100 | ||
SLC24A1 | C | 99 | 100.0 | ||
SLC25A46 | C | 100.0 | 100.0 | ||
SLC52A2 | C | 100 | 100 | ||
SPG7 | C | 100 | 100 | ||
SSBP1 | C | 100 | 100 | ||
TIMM8A | C | 100.0 | 100.0 | ||
TMEM126A | C | 100.0 | 100.0 | ||
TWNK | C | 100 | 100 | ||
UCHL1 | C | 100 | 100 | ||
WFS1 | C | 99 | 99 | ||
YME1L1 | C | 100 | 100 |
Indicatie(s) |
---|
Leber hereditary optische neuropathie LHON |
Opticus atrofie/opticopathie, dominant |
** 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