Panel name | NGS Congenital stationary nightblindness |
---|---|
Panel method | Wes-based NGS |
Panel version ** | AlbGOAv4 / CSNBv3 |
Panel quality *** | C |
Core-NL | No core-NL genes included |
CNV analysis | Yes |
Location | Location AMC |
Genes (22) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
CABP4 | C | 100.0 | 100.0 | ||
CACNA1F | C | 100.0 | 100.0 | ||
CACNA2D4 | C | 100.0 | 100.0 | ||
CHM | C | 97 | 97 | ||
CYP4V2 | C | 100.0 | 100.0 | ||
GNAT1 | C | 100.0 | 100.0 | ||
GNB3 | C | 100.0 | 100.0 | ||
GPR179 | C | 100.0 | 100.0 | ||
GRK1 | C | 100.0 | 100.0 | ||
GRM6 | C | 100.0 | 100.0 | ||
GUCY2D | C | 98 | 99 | ||
LRIT3 | C | 100.0 | 100.0 | ||
NYX | C | 100.0 | 100.0 | ||
PDE6B | C | 100.0 | 100.0 | ||
RDH5 | C | 100.0 | 100.0 | ||
RHO | C | 100.0 | 100.0 | ||
RIMS2 | C | 100 | 100 | ||
RLBP1 | C | 100.0 | 100.0 | ||
RPE65 | C | 100.0 | 100.0 | ||
SAG | C | 100.0 | 100.0 | ||
SLC24A1 | C | 100.0 | 100.0 | ||
TRPM1 | C | 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