Panel naam | NGS Congenitale stationaire nachtblindheid |
---|---|
Panel methode | Wes-based NGS |
Panel versie ** | AlbGOAv4 / CSNBv3 |
Panel kwaliteit *** | C |
Core-NL | Geen core-NL genen inbegrepen |
CNV analyse | Ja |
Locatie | Locatie AMC |
Genen (22) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
---|---|---|---|---|---|
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 |
Indicatie(s) |
---|
Congenitaal stationaire nachtblindheid |
** 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