Hereditary Cancer
ARUP performs testing for several hereditary cancer syndromes that predispose at-risk individuals to early onset tumors and malignancies. Identifying individuals who have inherited a familial mutation may allow for early targeted or specialized screening procedures. Early identification of precancerous lesions may prevent death and other serious health problems from occurring.
ARUP has developed testing for more than 40 hereditary cancer syndromes. Some of the tests offered are for a single specific syndrome, while other tests involve multigene sequencing and deletion/duplication panels for individuals with a complex personal or family history where it is unclear which single gene should be tested. When more than one single gene could be causative for a familial cancer syndrome, it is often more cost effective to order a multigene panel.
Please click on the test code or test name to obtain a link to the Patient History Form for the desired test.
| Test # | Test Name | Additional Information | Test Keywords | |
|---|---|---|---|---|
| 2012026 | Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication | Breast Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| 2011949 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication | Breast Cancer | BRCA FGA, BRACA, HBOC | |
| 2011954 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing | Breast Cancer | BRCA FGS, BRACA, HBOC | |
| 2002722 | PTEN-Related Disorders Sequencing | Breast Cancer | PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
| 2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | Breast Cancer | PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
| 2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Breast Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2009302 | Li-Fraumeni (TP53) Sequencing | Breast Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2008398 | Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication | Breast Cancer | STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation | |
| 2008394 | Peutz-Jeghers Syndrome (STK11) Sequencing | Breast Cancer | STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation | |
| 2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Central Nervous System Cancer | VHL FGA, Brain Tumors, Pheochromocytoma | |
| 2002970 | Von Hippel-Lindau (VHL) Sequencing | Central Nervous System Cancer | VHL FGS, Congenital polycythemia | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Central Nervous System Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Central Nervous System Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2009302 | Li-Fraumeni (TP53) Sequencing | Central Nervous System Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2005360 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Endocrine Cancer | MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
| 2005359 | Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing | Endocrine Cancer | MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) | |
| 0051390 | Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing | Endocrine Cancer | MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene | |
| 2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Endocrine Cancer | VHL FGA, Brain Tumors, Pheochromocytoma | |
| 2002970 | Von Hippel-Lindau (VHL) Sequencing | Endocrine Cancer | VHL FGS, Congenital polycythemia | |
| 2007167 | Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel | Endocrine Cancer | ||
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Endocrine Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 2006948 | SDHB with Interpretation by Immunohistochemistry | Endocrine Cancer | ||
| 2007108 | Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication | Additional Technical Information | Endocrine Cancer | |
| 2007117 | Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication | Additional Technical Information | Endocrine Cancer | |
| 2002722 | PTEN-Related Disorders Sequencing | Endocrine Cancer | PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
| 2007122 | Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication | Additional Technical Information | Endocrine Cancer | |
| 2002470 | PTEN-Related Disorders Sequencing and Deletion/Duplication | Endocrine Cancer | PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism | |
| 2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Endocrine Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2009302 | Li-Fraumeni (TP53) Sequencing | Endocrine Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 0051750 | BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation | Gastrointestinal Cancer | BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers | |
| 2002499 | MLH1 Promoter Methylation, Paraffin | Additional Technical Information | Gastrointestinal Cancer | MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers |
| 0049302 | Mismatch Repair by Immunohistochemistry | Additional Technical Information | Gastrointestinal Cancer | MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
| 0051740 | Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR | Additional Technical Information | Gastrointestinal Cancer | MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair |
| 2005270 | Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation | Additional Technical Information | Gastrointestinal Cancer | MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch |
| 2004915 | Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations | Gastrointestinal Cancer | FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer | |
| 2004863 | Familial Adenomatous Polyposis (APC) Sequencing | Gastrointestinal Cancer | APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer | |
| 2004911 | MUTYH-Associated Polyposis (MUTYH) 2 Mutations | Gastrointestinal Cancer | MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis | |
| 2006191 | MUTYH-Associated Polyposis (MUTYH) Sequencing | Gastrointestinal Cancer | MUTYH, FGS, MYH | |
| 2006307 | MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing | Gastrointestinal Cancer | MUTYH RFLX MYH | |
| 2004992 | Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | BMPR1A FGA, JPS, SMAD4 | |
| 2004988 | Juvenile Polyposis (BMPR1A) Sequencing | Gastrointestinal Cancer | BMPR1A FGS, JPS, SMAD4, Juvenile Polyposis | |
| 2013449 | Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP) | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Gastrointestinal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 0051650 | HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch | |
| 0051654 | HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 0051656 | HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 0051737 | HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication | Additional Technical Information | Gastrointestinal Cancer | PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2001971 | Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis | |
| 2009302 | Li-Fraumeni (TP53) Sequencing | Gastrointestinal Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 0051510 | Juvenile Polyposis (SMAD4) Sequencing | Gastrointestinal Cancer | SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis | |
| 2008398 | Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication | Gastrointestinal Cancer | STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation | |
| 2008394 | Peutz-Jeghers Syndrome (STK11) Sequencing | Gastrointestinal Cancer | STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation | |
| 2012026 | Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication | Ovarian Cancer | BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 | |
| 2011949 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication | Ovarian Cancer | BRCA FGA, BRACA, HBOC | |
| 2011954 | Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing | Ovarian Cancer | BRCA FGS, BRACA, HBOC | |
| 0051650 | HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication | Ovarian Cancer | MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch | |
| 0051654 | HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication | Additional Technical Information | Ovarian Cancer | MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 0051656 | HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication | Additional Technical Information | Ovarian Cancer | MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 0051737 | HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication | Additional Technical Information | Ovarian Cancer | PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | Renal Cancer | VHL FGA, Brain Tumors, Pheochromocytoma | |
| 2002970 | Von Hippel-Lindau (VHL) Sequencing | Renal Cancer | VHL FGS, Congenital polycythemia | |
| 2010214 | Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Renal Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Renal Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2009302 | Li-Fraumeni (TP53) Sequencing | Renal Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2012032 | Hereditary Cancer Panel, Sequencing and Deletion/Duplication | Skin Cancer | CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel | |
| 2009313 | Li-Fraumeni (TP53) Sequencing and Deletion/Duplication | Skin Cancer | TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
| 2009302 | Li-Fraumeni (TP53) Sequencing | Skin Cancer | TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret |
