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NGS Hereditary cancer panel 2

Panel name NGS Hereditary cancer panel 2
Panel method Wes-based NGS
Panel version ** v7.1
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Location Location VUmc
Genes (155) Quality % coverage >30 % coverage >20 Core-NL Note
ABRAXAS1 C 99.99 100.00 NM_139076.3
ACD C 100.00 100.00 NM_001082486.2
AIP C 100.00 100.00 NM_003977.2
AKT1 C 100.00 100.00 NM_001382430.1
ALK C 100.00 100.00 NM_004304.5
ANKRD26 C 98.02 98.03 NM_014915.3
APC C 100.00 100.00 NM_000038.6
ATM C 100.00 100.00 NM_001351834.2
AXIN2 C 100.00 100.00 NM_004655.4
BAP1 C 100.00 100.00 NM_004656.4
BARD1 C 100.00 100.00 NM_000465.4
BLM C 100.00 100.00 NM_000057.4
BMPR1A C 99.93 100.00 NM_004329.3
BRCA1 C 99.99 100.00 NM_007294.4
BRCA2 C 100.00 100.00 NM_000059.4
BRIP1 C 99.99 100.00 NM_032043.3
BUB1B C 100.00 100.00 NM_001211.6
BUB3 C 100.00 100.00 NM_004725.4
CBL C 100.00 100.00 NM_005188.4
CDC73 C 100.00 100.00 NM_024529.5
CDH1 C 100.00 100.00 NM_004360.5
CDK4 C 100.00 100.00 NM_000075.4
CDKN1A C 100.00 100.00 NM_000389.5
CDKN1B C 100.00 100.00 NM_004064.5
CDKN1C C 94.92 98.33 NM_001122630.2
CDKN2A C 100.00 100.00 NM_000077.5
CDKN2B C 100.00 100.00 NM_004936.4
CDKN2C C 99.82 100.00 NM_078626.3
CEBPA C 99.62 99.97 NM_004364.5
CHEK2 C 100.00 100.00 NM_007194.4
CTC1 C 100.00 100.00 NM_025099.6
CTNNA1 C 100.00 100.00 NM_001903.5
CTR9 C 100.00 100.00 NM_014633.5
CYLD C 99.96 100.00 NM_001378743.1
DDB2 C 100.00 100.00 NM_000107.2
DDX41 C 100.00 100.00 NM_016222.4
DICER1 C 100.00 100.00 NM_177438.3
DIS3L2 C 100.00 100.00 NM_152383.5
DKC1 C 99.7 99.92 NM_001363.5
DOCK8 C 100.00 100.00 NM_203447.4
EGFR C 99.93 100.00 NM_005228.5
EPCAM C 99.99 100.00 NM_002354.3
ERCC2 C 100.00 100.00 NM_000400.4
ERCC3 C 100.00 100.00 NM_000122.2
ERCC4 C 99.99 100.00 NM_005236.3
ERCC5 C 100.00 100.00 NM_000123.4
ETV6 C 100.00 100.00 NM_001987.5
EXT1 C 100.00 100.00 NM_000127.3
EXT2 C 100.00 100.00 NM_207122.2
FAAP100 C 100.00 100.00 NM_025161.6
FAH C 100.00 100.00 NM_000137.4
FAN1 C 100.00 100.00 NM_014967.5
FANCA C 100.00 100.00 NM_000135.4
FANCB C 100.00 100.00 NM_001018113.3
FANCC C 100.00 100.00 NM_000136.3
FANCD2 C 99.98 100.00 NM_001018115.3
FANCE C 100.00 100.00 NM_021922.3
FANCF C 100.00 100.00 NM_022725.4
FANCG C 100.00 100.00 NM_004629.2
FANCI C 100.00 100.00 NM_001376911.1
FANCL C 99.94 99.95 NM_018062.4
FANCM C 100.00 100.00 NM_020937.4
FAS C 100.00 100.00 NM_000043.6
FH C 100.00 100.00 NM_000143.4
FLCN C 99.91 100.00 NM_144997.7
GALNT12 C 98.18 99.54 NM_024642.5
GATA2 C 100.00 100.00 NM_032638.5
GPC3 C 100.00 100.00 NM_004484.4
GREM1 C 100.00 100.00 NM_013372.7
HMBS C 100.00 100.00 NM_000190.4
HOXB13 C 100.00 100.00 NM_006361.6
IPMK C 100.00 100.00 NM_152230.5
ITK C 100.00 100.00 NM_005546.4
KIT C 99.99 100.00 NM_000222.3
LZTR1 C 98.92 99.83 NM_006767.4
MAD2L2 C 99.91 99.98 NM_006341.4
MAX C 100.00 100.00 NM_002382.5
MBD4 C 100.00 100.00 NM_001276270.2
MCM9 C 100.00 100.00 NM_017696.3
MEN1 C 100.00 100.00 NM_001370259.2
MET C 100.00 100.00 NM_000245.4
MITF C 100.00 100.00 NM_001354604.2
MLH1 C 99.95 100.00 NM_000249.4
MLH3 C 100.00 100.00 NM_001040108.2
MSH2 C 99.86 99.98 NM_000251.3
MSH3 C 99.96 100.00 NM_002439.5
MSH6 C 100.00 100.00 NM_000179.3
MTAP C 100.00 100.00 NM_002451.4
MUTYH C 100.00 100.00 NM_001048174.2
NBN C 99.99 100.00 NM_002485.5
NF1 C 97.52 97.54 NM_001042492.3
NF2 C 100.00 100.00 NM_000268.4
NSD1 C 100.00 100.00 NM_022455.5
NTHL1 C 99.96 100.00 NM_002528.7
PALB2 C 99.99 100.00 NM_024675.4
PAX5 C 99.97 100.00 NM_016734.3
PDGFRA C 100.00 100.00 NM_006206.6
PHOX2B C 95.3 98.4 NM_003924.4
PIK3CA C 100.00 100.00 NM_006218.4
PMS2 C 78 78.84 NM_000535.7
POLD1 C 99.99 100.00 NM_002691.4
POLE C 99.99 100.00 NM_006231.4
POLH C 100.00 100.00 NM_006502.3
POT1 C 100.00 100.00 NM_015450.3
PRDM10 C 100.00 100.00 NM_199437.2
PRF1 C 100.00 100.00 NM_001083116.3
PRKAR1A C 100.00 100.00 NM_002734.5
PTCH1 C 100.00 100.00 NM_000264.5
PTCH2 C 99.3 99.89 NM_003738.5
PTEN C 100.00 100.00 NM_000314.8
PTPN11 C 100.00 100.00 NM_002834.5
RAD50 C 99.98 100.00 NM_005732.4
RAD51 C 100.00 100.00 NM_002875.5
RAD51C C 99.99 100.00 NM_058216.3
RAD51D C 100.00 100.00 NM_002878.4
RB1 C 99.98 100.00 NM_000321.3
RECQL4 C 100.00 100.00 NM_004260.4
REST C 100.00 100.00 NM_005612.5
RET C 100.00 100.00 NM_020975.6
RHBDF2 C 100.00 100.00 NM_001005498.4
RMRP
RNF139 C 100.00 100.00 NM_007218.4
RNF43 C 100.00 100.00 NM_017763.6
RUNX1 C 100.00 100.00 NM_001754.5
SBDS C 100.00 100.00 NM_016038.4
SDHA C 99.98 100.00 NM_004168.4
SDHAF2 C 100.00 100.00 NM_017841.4
SDHB C 99.62 100.00 NM_003000.3
SDHC C 100.00 100.00 NM_003001.5
SDHD C 100.00 100.00 NM_003002.4
SH2D1A C 99.9 100.00 NM_002351.5
SLX4 C 100.00 100.00 NM_032444.4
SMAD4 C 100.00 100.00 NM_005359.6
SMARCA4 C 99.99 100.00 NM_003072.5
SMARCB1 C 100.00 100.00 NM_003073.5
SMARCE1 C 100.00 100.00 NM_003079.5
SOS1 C 99.99 100.00 NM_005633.4
SPRED1 C 100.00 100.00 NM_152594.3
STK11 C 100.00 100.00 NM_000455.5
SUFU C 100.00 100.00 NM_016169.4
TERF2IP C 100.00 100.00 NM_018975.4
TERT C 100.00 100.00 NM_198253.3
TMEM127 C 100.00 100.00 NM_017849.4
TP53 C 100.00 100.00 NM_000546.6
TRIM37 C 99.89 99.99 NM_015294.6
TRIP13 C 100.00 100.00 NM_004237.4
TSC1 C 100.00 100.00 NM_000368.5
TSC2 C 99.98 99.99 NM_000548.5
VHL C 100.00 100.00 NM_000551.4
WAS C 99.81 100.00 NM_000377.3
WRN C 100.00 100.00 NM_000553.6
WT1 C 99.92 100.00 NM_024426.6
XPA C 100.00 100.00 NM_000380.4
XPC C 100.00 100.00 NM_004628.5
XRCC2 C 100.00 100.00 NM_005431.2
Indication(s)
Tumor syndromes

** 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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