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NGS Vision disorder Albinism

Panel name NGS Vision disorder Albinism
Panel method Targeted NGS
Panel version ** AlbGOAv4 / ALBIv6
Panel quality *** A/C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (33) Quality % coverage >30 % coverage >20 Core-NL Note
AHR C
AP3B1 A 100.0 100.0
AP3D1 C
BLOC1S3 A 100.0 100.0
BLOC1S4 C
BLOC1S5 C
BLOC1S6 A 100.0 100.0
COL18A1 C
DCT C
DTNBP1 A 100.0 100.0
EPG5 C
FRMD7 A 100.0 100.0
GNAI3 C
GPR143 A 100.0 100.0
HPS1 A 100.0 100.0
HPS3 A 100.0 100.0
HPS4 A 100.0 100.0
HPS5 A 100.0 100.0
HPS6 A 100.0 100.0
LRMDA A 100.0 100.0
LYST A 100.0 100.0
MC1R A 100.0 100.0
MITF A 100.0 100.0
MLPH A 100.0 100.0
MYO5A A 100.0 100.0
OCA2 A 100.0 100.0
PAX6 C
RAB27A A 100.0 100.0
SLC24A5 A 100.0 100.0
SLC38A8 A 100.0 100.0
SLC45A2 A 100.0 100.0
TYR A 100.0 100.0
TYRP1 A 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


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