| 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