| Panel naam | NGS Glaucoma |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | AlbGOAv4 / GLAUv2 |
| Panel kwaliteit *** | A/C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (35) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ADAMTS10 | C | ||||
| ARHGEF12 | C | ||||
| ASB10 | C | ||||
| B3GLCT | C | ||||
| BEST1 | C | ||||
| CHRDL1 | C | ||||
| COL1A1 | C | ||||
| COL4A1 | C | ||||
| CPAMD8 | C | ||||
| CYP1B1 | C | ||||
| EFEMP1 | A | 100.0 | 100.0 | ||
| FGFR2 | C | ||||
| FOXC1 | C | ||||
| FOXE3 | C | ||||
| GJA1 | A | 100.0 | 100.0 | ||
| GLIS3 | C | ||||
| LMX1B | C | ||||
| LOXL1 | C | ||||
| LTBP2 | C | ||||
| MYOC | C | ||||
| NTF4 | A | 100.0 | 100.0 | ||
| OPA1 | C | ||||
| OPTN | C | ||||
| PAX6 | A | 100.0 | 100.0 | ||
| PITX2 | C | ||||
| PITX3 | C | ||||
| POMGNT1 | A | 100.0 | 100.0 | ||
| PRPF8 | C | ||||
| PXDN | C | ||||
| SBF2 | C | ||||
| SH3PXD2B | C | ||||
| SLC4A4 | C | ||||
| SOX2 | C | ||||
| TBK1 | C | ||||
| TEK | A | 100.0 | 100.0 |
| Indicatie(s) |
|---|
| Primair glaucoma |
** 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