Panel name | NGS Vision disorder Albinism |
---|---|
Panel method | Wes-based NGS |
Panel version ** | AlbGOAv4 / ALBIv6 |
Panel quality *** | C |
Core-NL | No core-NL genes included |
CNV analysis | Yes |
Location | Location AMC |
Genes (33) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
AHR | C | 100 | 100 | ||
AP3B1 | C | 100 | 100.0 | ||
AP3D1 | C | 100 | 100 | ||
BLOC1S3 | C | 98 | 100.0 | ||
BLOC1S4 | C | 100 | 100 | ||
BLOC1S5 | C | 100 | 100 | ||
BLOC1S6 | C | 99 | 100.0 | ||
COL18A1 | C | 100 | 100 | ||
DCT | C | 100 | 100 | ||
DTNBP1 | C | 100.0 | 100.0 | ||
EPG5 | C | 100 | 100 | ||
FRMD7 | C | 100.0 | 100.0 | ||
GNAI3 | C | 99 | 1000 | ||
GPR143 | C | 96 | 98 | ||
HPS1 | C | 100.0 | 100.0 | ||
HPS3 | C | 100.0 | 100.0 | ||
HPS4 | C | 100.0 | 100.0 | ||
HPS5 | C | 100.0 | 100.0 | ||
HPS6 | C | 100.0 | 100.0 | ||
LRMDA | C | 99 | 100.0 | ||
LYST | C | 100.0 | 100.0 | ||
MC1R | C | 100.0 | 100.0 | ||
MITF | C | 100.0 | 100.0 | ||
MLPH | C | 100.0 | 100.0 | ||
MYO5A | C | 98 | 98 | ||
OCA2 | C | 99 | 100.0 | ||
PAX6 | C | 93 | 94 | ||
RAB27A | C | 100.0 | 100.0 | ||
SLC24A5 | C | 100.0 | 100.0 | ||
SLC38A8 | C | 100.0 | 100.0 | ||
SLC45A2 | C | 100.0 | 100.0 | ||
TYR | C | 96 | 96 | ||
TYRP1 | C | 100.0 | 100.0 |
Indication(s) |
---|
Albinism, recessive |
Ocular albimism |
** 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