NGS Osteopetrosis and dense bone dysplasia

Panel name	NGS Osteopetrosis and dense bone dysplasia
Panel method	WES-based NGS
Panel version **	v1
Panel quality ***	C
Core-NL	No core-NL genes included
CNV analysis	No
Location	Location VUmc

Genes (59)	Quality	% coverage >30	% coverage >20	Core-NL	Note
ACVR1	C
AMER1	C
ANKH	C
ANO5	C
CA2	C
CLCN7	C
COL1A1	C
COX4I2	C
CSF1R	C
CTSK	C
DHCR24	C
DLX3	C
DVL1	C
EXT1	C
EXT2	C
FAM111A	C
FAM20C	C
FERMT3	C
FKBP5	C
GJA1	C
GNAS	C
HPGD	C
IFITM5	C
IKBKG	C
ITGA2B	C
ITGB3	C
KRAS	C
LEMD3	C
LRP4	C
LRP5	C
LRP6	C
LRRK1	C
MAP2K1	C
OSTM1	C
PHEX	C
PLEKHM1	C
PORCN	C
PTDSS1	C
PTH1R	C
RASGRP2	C
SFRP4	C
SLC29A3	C
SLC39A14	C
SLC4A2	C
SLCO2A1	C
SMAD3	C
SMAD9	C
SNX10	C
SOST	C
SP7	C
SQSTM1	C
TBXAS1	C
TCIRG1	C
TGFB1	C
TMEM53	C
TNFRSF11A	C
TNFRSF11B	C
TNFSF11	C
ZNF687	C

Indication(s)
Osteopetrosis

** 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