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NGS Optic atrophy

Panel name NGS Optic atrophy
Panel method Targeted NGS
Panel version ** AlbGOAv4 / DOAv2
Panel quality *** A/C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (34) Quality % coverage >30 % coverage >20 Core-NL Note
ACO2 A 100.0 100.0
AFG3L2 C
AUH A 100.0 100.0
C12orf65 A 100.0 100.0
C19orf12 C
CISD2 A 100.0 100.0
DNAJC30 C
DNM1L C
HMBS C
KIF7 C
MFN2 A 100.0 100.0
MIEF1 C
MTPAP A 100.0 100.0
NBAS A 100.0 100.0
NDUFAF5 C
NDUFS1 A 100.0 100.0
NDUFS2 C
NDUFS3 C
NR2F1 A 100.0 100.0
OPA1 A 100.0 100.0
OPA3 A 100.0 100.0
RTN4IP1 A 100.0 100.0
SDHA C
SLC24A1 A 100.0 100.0
SLC25A46 A 100.0 100.0
SLC52A2 C
SPG7 C
SSBP1 C
TIMM8A A 100.0 100.0
TMEM126A A 100.0 100.0
TWNK C
UCHL1 C
WFS1 A 100.0 100.0
YME1L1 C
Indication(s)
Leber hereditary optic neuropathy LHON
Optic atrophy

** 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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