GeneMate® PREMIUM
GeneMate® PREMIUM is our most comprehensive test, comprised of all the other tests combined, plus some. (See table below).
| Gene | Cancer syndrome | Most common cancers associated with a risk variant in each gene |
|---|---|---|
| ATM CHEK2 BARD1 |
Hereditary breast amd ovarian cancer (HBOC) Hereditary prostate cancer (BRCA2) |
Breast cancer |
| BRCA1 BRCA2 PALB2 RAD51C RAD51D |
Breast cancer and ovarian cancer. Hereditary prostate cancer (BRCA2) |
|
| BRIP1 | Ovarian cancer | |
| PTEN | PTEN hamartoma tumor syndrome (PHTS) | Breast cancer, thyroid cancer, uterine (endometrial) cancer, and colorectal cancer. |
| CDH1 | Hereditary diffuse gastric cancer | Diffuse stomach cancer and lobular breast cancer |
| NF1 | Neurofibromatosis 1 | Several cancers, including breast cancer |
| TP53 | Li-Fraumeni | Several cancers, including breast cancer, sarcoma, brain tumors, and adrenal cortex cancer |
| STK11 | Peutz-Jeghers syndrome (PJS) | Several cancers, including breast cancer, colorectal cancer, and gynecological cancer |
| EPCAM MLH1 MSH2 MSH6 PMS2 |
Lynch syndrome | Colorectal cancer, uterine (endometrial) cancer, ovarian cancer, urinary tract cancer, stomach cancer, and small bowel cancer. |
| MUTYH | MUTYH-associated polyposis (MAP) | Colorectal cancer |
| APC | Familial adenomatous polyposis (FAP) | Colorectal cancer |
| CDKN2A | Familial melanoma | Melanoma and pancreatic cancer |
| BAP1 | Melanoma of the skin and eye, and kidney cancer | |
| SDHA SDHAF2 SDHB SDHC SDHD TMEM127 MAX VHL RET NF1 |
Hereditary pheochromocytoma and paraganglioma | Pheochromocytoma and paraganglioma, Feokromocytom och paragangliom, clear cell renal cell carcinoma (kidney), gastrointestinal stromal tumor (GIST), pituitary tumor |
| FLCN | Birt-Hogg-Dubé syndrome (BHD) | Kidney cancer |
| FH | Hereditary leiomyomatosis and renal cell cancer (HLRCC) | Kidney cancer |
| VHL | Von Hippel-Lindau syndrome (VHL) | Kidney cancer, vascular tumors in the cerebellum, brainstem, spinal cord and retina |
| RET | Familial thyroid cancer/MEN2 | Thyroid cancer and pheochromocytoma |
| NF2 | Neurofibromatosis 2 | Benign vestibular schwannomas |
| RB1 | Retinoblastoma | Retinoblastoma |
| SMARCB1 | Rhabdoid Tumor Predisposition syndrome (RTPS) | Malignant rhabdoid tumors |
| TSC1 TSC2 |
Tuberous sclerosis | Benign tumors in the brain, kidneys, heart, eyes, lungs, and skin |
| DICER1 | DICER1 syndrome | Several cancers |
| WT1 | Wilms’ tumor | Kidney tumors |
| MEN1 | MEN1 | Several cancers, including tumors in the parathroid gland, pancreas, pituitary, etc. |