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NGS Stickler syndrome and related disorders

Panel name NGS Stickler syndrome and related disorders
Panel method Targeted NGS
Panel version ** v4.0
Panel quality *** A/C
Core-NL 6 core-NL genes included
CNV analysis Yes
Location Location VUmc
Genes (17) Quality % coverage >30 % coverage >20 Core-NL Note
BMP4 C 100 100
COL11A1 A 100 100 core-NL
COL11A2 A 100 100 core-NL
COL2A1 A 100 100 core-NL
COL9A1 A 100 100 core-NL
COL9A2 A 100 100 core-NL
COL9A3 A 100 100 core-NL
GZF1 C 100 100
KCNJ13 C 100 100
LOXL3 C 100 100
LRP2 C 100 100
P3H2 C 100 100
PLOD3 C 100 100
SLC26A2 C 100 100
SLITRK6 C 100 100
VCAN C 100 100
XYLT2 C 100 100
Indication(s)
Bruck syndrome
Kniest dysplasia
Marshall syndrome
Multiple epiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
Spondyloepiphyseal dysplasia with congenital joint dislocations
Stickler syndrome
Wagner syndrome
Weissenbacher-Zweymuller syndrome

** 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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