| Panel name | NGS Hereditary cancer panel 1 |
|---|---|
| Panel method | Wes-based NGS |
| Panel version ** | v5.2 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Location | Location VUmc |
| Genes (63) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ACD | C | 100.00 | 100.00 | NM_001082486.2 | |
| 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 | |
| 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 | |
| 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 | |
| CDKN2A | C | 100.00 | 100.00 | NM_000077.5 | |
| CHEK2 | C | 100.00 | 100.00 | NM_007194.4 | |
| CTNNA1 | C | 100.00 | 100.00 | NM_001903.5 | |
| DICER1 | C | 100.00 | 100.00 | NM_177438.3 | |
| FH | C | 100.00 | 100.00 | NM_000143.4 | |
| FLCN | C | 99.91 | 100.00 | NM_144997.7 | |
| GREM1 | C | 100.00 | 100.00 | NM_013372.7 | |
| HOXB13 | C | 100.00 | 100.00 | NM_006361.6 | |
| MAX | C | 100.00 | 100.00 | NM_002382.5 | |
| MEN1 | C | 100.00 | 100.00 | NM_001370259.2 | |
| MET | C | 100.00 | 100.00 | NM_000245.4 | |
| MLH1 | C | 99.95 | 100.00 | NM_000249.4 | |
| 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 | |
| MUTYH | C | 100.00 | 100.00 | NM_001048174.2 | |
| NF1 | C | 97.52 | 97.54 | NM_001042492.3 | |
| NF2 | C | 100.00 | 100.00 | NM_000268.4 | |
| NTHL1 | C | 99.96 | 100.00 | NM_002528.7 | |
| PALB2 | C | 99.99 | 100.00 | NM_024675.4 | |
| 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 | |
| POT1 | C | 100.00 | 100.00 | NM_015450.3 | |
| PRDM10 | C | 100.00 | 100.00 | NM_199437.2 | |
| PRKAR1A | C | 100.00 | 100.00 | NM_002734.5 | |
| PTCH1 | C | 100.00 | 100.00 | NM_000264.5 | |
| PTEN | C | 100.00 | 100.00 | NM_000314.8 | |
| 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 | |
| RET | C | 100.00 | 100.00 | NM_020975.6 | |
| RNF43 | C | 100.00 | 100.00 | NM_017763.6 | |
| 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 | |
| SMAD4 | C | 100.00 | 100.00 | NM_005359.6 | |
| SMARCB1 | C | 100.00 | 100.00 | NM_003073.5 | |
| STK11 | C | 100.00 | 100.00 | NM_000455.5 | |
| SUFU | C | 100.00 | 100.00 | NM_016169.4 | |
| TMEM127 | C | 100.00 | 100.00 | NM_017849.4 | |
| TP53 | C | 100.00 | 100.00 | NM_000546.6 | |
| 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 | |
| WT1 | C | 99.92 | 100.00 | NM_024426.6 |
| 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