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NGS Congenital stationary nightblindness

Panel name NGS Congenital stationary nightblindness
Panel method Targeted NGS
Panel version ** AlbGOAv4 / CSNBv3
Panel quality *** A/C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (22) Quality % coverage >30 % coverage >20 Core-NL Note
CABP4 A 100.0 100.0
CACNA1F A 100.0 100.0
CACNA2D4 A 100.0 100.0
CHM C
CYP4V2 A 100.0 100.0
GNAT1 A 100.0 100.0
GNB3 A 100.0 100.0
GPR179 A 100.0 100.0
GRK1 A 100.0 100.0
GRM6 A 100.0 100.0
GUCY2D C
LRIT3 A 100.0 100.0
NYX A 100.0 100.0
PDE6B A 100.0 100.0
RDH5 A 100.0 100.0
RHO A 100.0 100.0
RIMS2 C
RLBP1 A 100.0 100.0
RPE65 A 100.0 100.0
SAG A 100.0 100.0
SLC24A1 A 100.0 100.0
TRPM1 A 100.0 100.0
Indication(s)
Night blindness congenital stationery

** 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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