Our suite of hereditary cancer tests uses next generation sequencing to detect clinically relevant gene variants for many cancer syndromes:

  • Breast, ovarian, and endometrial cancers
  • Gastrointestinal cancers, including Lynch syndrome, and APC- and MUTYH-associated polyposis
  • Central nervous system cancers
  • Endocrine cancers, including pancreatic cancer, thyroid cancer, and multiple endocrine neoplasia
  • Prostate cancer
  • Melanoma
  • Bone marrow failure
  • Hereditary myeloid neoplasms

Identification of these variants can help providers:

  • Determine individual and familial cancer risk
  • Develop additional screening and monitoring strategies
  • Develop treatment plans

Why Test With ARUP?

Our tests are backed by nationally and internationally recognized pathologists, subspecialty-qualified clinicians, board-certified clinical geneticists, genetic counselors, and clinical variant scientists. Many of our medical directors lead or are involved in the development of professional practice guidelines for genetic testing and laboratory regulation. Our experts are available to provide support and answer your questions about ordering, results interpretation, and logistical issues.

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Compare Our Panel Test Offerings

The ARUP Hereditary Cancer Panel Comparison tool facilitates test selection by enabling you to directly compare the genes targeted in each of our panels.

Available Tests

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Multiple Hereditary Cancer Syndromes
Pathogenic germline variants in multiple genes have been implicated in hereditary cancer. ARUP offers panel testing to investigate situations in which an individual has a personal or family history consistent with multiple, multifocal, and/or related cancers.

Hereditary Cancer Panel, Sequencing and Deletion/Duplication (2012032) 

Recommended use: Confirm a hereditary cause of cancer in individuals with a personal or family history consistent with features of more than one cancer syndrome

Learn more: Hereditary Cancer Panel | Test Fact Sheet (arupconsult.com)

Genes tested: ALK; APC*; ATM; AXIN2; BAP1; BARD1; BMPR1A*; BRCA1*; BRCA2; BRIP1; CDC73; CDH1*; CDK4; CDKN1B; CDKN2A*; CHEK2*; CTNNA1*; DICER1; EGFR; EPCAM**; FH; FLCN*; HOXB13; HRAS; KIT; LZTR1; MAX; MC1R; MEN1*; MET; MITF*; MLH1; MLH3*; MSH2; MSH3; MSH6; MUTYH; NBN; NF1; NF2; NTHL1; PALB2; PDGFRA*; PMS2; POLD1; POLE; POT1; PRKAR1A; PTCH1; PTEN*; RAD51C; RAD51D; RB1*; RECQL*; RET; SDHA*; SDHAF2; SDHB; SDHC*; SDHD*; SMAD4; SMARCA4; SMARCB1; SMARCE1*; STK11; SUFU; TERT; TMEM127; TP53; TSC1; TSC2; VHL*; WT1

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Cancer Panel | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only; sequencing is not available for this gene
Hereditary Breast and Gynecologic Cancers
In addition to pathogenic variants in the BRCA1 and BRCA2 genes, variants in several other moderate- and high-risk genes have been identified. Testing for these genes enables additional screening, and in some cases, risk-reducing actions. ARUP’s panels provide information about whether a patient is at increased risk of developing a cancer associated with one of these variants and can also be used to test at-risk family members.

Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication
(2012026) 

Recommended use: Confirm a hereditary cause of breast and/or gynecologic cancer(s) in individuals with a complex personal or family history of breast, ovarian, or endometrial cancer

This panel includes genes associated with a moderate or high lifetime risk (>15%) of developing cancer

Learn more: Hereditary Breast and Gynecologic Cancers Panel | Test Fact Sheet (arupconsult.com)

Genes tested: ATM; BARD1; BRCA1*; BRCA2; BRIP1; CDH1*; CHEK2*; DICER1; EPCAM**; MLH1; MSH2; MSH6; NBN; NF1; PALB2; PMS2; PTEN*; RAD51C; RAD51D; RECQL*; SMARCA4; STK11; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Breast and Gynecologic Cancers Panel | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only; sequencing is not available for this gene

Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication (3005654) 

Recommended use: Germline analysis of genes associated with a moderate to high lifetime risk (>15%) of developing breast cancer

Learn more: Hereditary Breast Cancer (Including BRCA1 and BRCA2) | Test Fact Sheet (arupconsult.com)

Genes tested: ATM; BARD1; BRCA1*; BRCA2; CDH1*; CHEK2*; NF1; PALB2; PTEN*; STK11; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Breast Cancer (Including BRCA1 and BRCA2) | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only; sequencing is not available for this gene

Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication (3005632) 

Recommended use: Germline analysis of genes associated with a high lifetime risk (>40%) of hereditary breast cancer or related cancers in individuals with a personal or family history thereof

May provide information relevant to prognosis, familial risk, adverse clinical features, and potential treatment options

In addition to breast cancer, results of this panel will indicate the risk of developing other associated cancers

Learn more: Hereditary Breast Cancer (Including BRCA1 and BRCA2) | Test Fact Sheet (arupconsult.com)

Genes tested: BRCA1*; BRCA2; CDH1*; PALB2; PTEN*; TP53
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Breast Cancer (Including BRCA1 and BRCA2) | Test Fact Sheet (arupconsult.com)

BRCA1 and BRCA2- Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication (3001855) 

Recommended use: Confirm BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) syndrome

Learn more: Hereditary Breast Cancer (Including BRCA1 and BRCA2) | Test Fact Sheet (arupconsult.com)

Genes tested: BRCA1*, BRCA2

*One or more exons are not covered by deletion/duplication analysis for the indicated gene; refer to Hereditary Breast Cancer (Including BRCA1 and BRCA2) | Test Fact Sheet (arupconsult.com)
Hereditary Gastrointestinal Cancer
Pathogenic germline variants in multiple genes have been implicated in hereditary gastrointestinal (GI) cancer and/or polyposis. Molecular genetic testing aids in early detection, optimal clinical screening, management, and treatment. ARUP also offers testing suitable for at-risk family members who may benefit from preventive measures and early screening (e.g., by imaging).

Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication  (2013449)

Recommended use: Confirm a hereditary cause of GI cancer in individuals with a personal or family history of GI cancer and/or polyposis

Learn more: Hereditary Gastrointestinal Cancer | Test Fact Sheet (arupconsult.com)

Genes tested: APC*; AXIN2; BMPR1A*; CDH1*; CHEK2*; EPCAM**; KIT; MLH1; MLH3*; MSH2; MSH3; MSH6; MUTYH; NTHL1; PDGFRA*; PMS2; POLD1; POLE; PTEN*; SDHA*; SDHB; SDHC*; SDHD*; SMAD4; STK11; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Gastrointestinal Cancer | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only, sequencing is not available for this gene

Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication (3005697)

Recommended use: Germline analysis of genes associated with high-risk hereditary colorectal cancer syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP), other APC-associated polyposis conditions, and MUTYH-associated polyposis

Learn more: Hereditary Gastrointestinal Cancer | Test Fact Sheet (arupconsult.com)

Genes tested: APC*; EPCAM**; MLH1; MSH2; MSH6; MUTYH; PMS2

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Gastrointestinal Cancer | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only, sequencing is not available for this gene   

Lynch Syndrome Panel, Sequencing and Deletion/Duplication (3001605) 

Recommended use: Confirm a diagnosis of Lynch syndrome (LS) in individuals with a personal and/or family history consistent with LS

Patients with LS are also predisposed to other cancers (e.g., endometrial, ovarian, stomach, and small bowel)

To learn more about the recommended testing strategy for LS, visit: Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC) | Choose the Right Test (arupconsult.com)

Learn more about ARUP’s panel test: Lynch Syndrome Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: EPCAM*; MLH1, MSH2; MSH6; PMS2

*Deletion/duplication only; sequencing is not available for this gene

Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication (3005963) 

Recommended use: Confirm a hereditary cause of gastric cancer in individuals with a personal or family history thereof

Learn more: Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: APC*; BMPR1A*; CDH1*; CTNNA1*; EPCAM**; MLH1; MSH2; MSH6; PMS2; SMAD4; STK11; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only, sequencing is not available for this gene

APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication  (3004407) 

Recommended use: Diagnose or predict familial adenomatous polyposis (FAP), attenuated FAP, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), or MUTYH-associated polyposis (MAP)

Learn more: APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: APC, exon 1b; MUTYH
Hereditary Nervous System Cancers
Hereditary conditions associated with the development of nervous system cancers include Li-Fraumeni syndrome, neurofibromatosis, nevoid basal cell carcinoma syndrome, tuberous sclerosis, Lynch syndrome, familial adenomatous polyposis (FAP), and von Hippel-Lindau disease. ARUP’s panels can be used to determine the genetic etiology of cancer in affected individuals, allowing for additional testing for other cancer types (depending on the causative gene) and the identification of other at-risk family members.

Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication (3001633) 

Recommended use: Confirm a hereditary cause of central nervous system (CNS) cancer in individuals with a personal or family history

Learn more: Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: ALK; APC*; DICER1; EPCAM**; HRAS; LZTR1; MEN1*; MLH1; MSH2; MSH6; NF1; NF2; PMS2; POT1; PRKAR1A; PTCH1; PTEN*; RB1*; SMARCA4; SMARCB1; SMARCE1*; SUFU; TP53; TSC1; TSC2; VHL*

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only; sequencing is not available for this gene

Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication  (3005696) 

Recommended use: Confirm heritable retinoblastoma in individuals with a suspected diagnosis or relevant family history

Early identification of an RB1 pathogenic variant enables early diagnosis and screening for relatives at risk for retinoblastoma

Learn more: Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Gene tested: RB1
Hereditary Endocrine Cancers
ARUP’s panels can be used to diagnose a variety of hereditary endocrine cancers, including paraganglioma-pheochromocytoma syndrome, thyroid cancer, and multiple endocrine neoplasia. Identification of a pathogenic variant may inform medical management and the testing strategy for at-risk family members.

Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication (3004480) 

Recommended use: Confirm a suspected hereditary paraganglioma-pheochromocytoma syndrome in individuals with characteristic biochemical findings

Patients with identified pathogenic variants in one or more of the genes in this panel have a high chance of developing pheochromocytoma or paraganglioma syndromes; these patients may also develop other endocrine tumors, depending on the gene(s) involved

For more information about the suggested testing strategy in these syndromes, refer to Pheochromocytoma - Paraganglioma | Choose the Right Test (arupconsult.com)

Learn more about this test: Genetic Testing for Hereditary Paraganglioma/Pheochromocytoma | Test Fact Sheet (arupconsult.com)

Genes tested: SDHA*; SDHB; SDHC; SDHD

*One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; refer to Genetic Testing for Hereditary Paraganglioma/Pheochromocytoma | Test Fact Sheet (arupconsult.com)

Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication (3005912) 

Recommended use: Confirm a suspected hereditary paraganglioma-pheochromocytoma syndrome in individuals without clear biochemical findings

Learn more: Hereditary Paraganglioma-Pheochromocytoma Panels | Test Fact Sheet (arupconsult.com)

Genes tested: FH; MAX; MEN1*; NF1; RET; SDHA*; SDHAF2; SDHB; SDHC*; SDHD*; TMEM127; VHL*

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Paraganglioma-Pheochromocytoma Panels | Test Fact Sheet (arupconsult.com)

Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication (3005944) 

Recommended use: Confirm a hereditary cause of thyroid cancer in individuals with a personal or family history of thyroid cancer

For more information about the testing strategy for thyroid cancer, visit Thyroid Cancer | Choose the Right Test (arupconsult.com)

Learn more about this test: Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: APC*; DICER1; MEN1*; PRKAR1A; PTEN*; RET; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication (3004437)

Recommended use: Diagnose or predict multiple endocrine neoplasia type 1 (MEN1)

Learn more: Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Gene tested: MEN1

Multiple Endocrine Neoplasia Type 2 (MEN2), RET Sequencing (3004572)

Recommended use: Diagnose or predict multiple endocrine neoplasia type 2 (MEN2)

Learn more: Multiple Endocrine Neoplasia Type 2, RET Sequencing | Test Fact Sheet (arupconsult.com)

Gene tested: RET
Other Hereditary Cancers
ARUP offers single gene testing and panel testing for a number of other cancer syndromes, including hereditary prostate cancer, melanoma, renal cancer, bone marrow failure, myeloid neoplasms, and Birt-Hogg- Dubé syndrome.

Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication
 (3005686) 

Recommended use: Confirm a hereditary cause of prostate cancer in individuals with a personal or family history thereof

Individuals who carry germline variants in genes are at an increased risk of various cancers, including prostate cancer;  identification of a pathogenic variant facilitates prognosis and screening of at-risk relatives

Learn more: Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: ATM; BRCA1*; BRCA2; CHEK2*; EPCAM**; HOXB13; MLH1; MSH2; MSH6; NBN; PALB2; PMS2; RAD51D; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only, sequencing is not available for this gene.

Hereditary Melanoma Panel, Sequencing and Deletion/Duplication (3002673) 

Recommended use: Confirm a hereditary cause of melanoma in individuals with a personal or family history

Because pathogenic variants in some of the tested genes may result in an increased risk of cancer in other organs, test results may aid in the selection of an appropriate screening strategy

Learn more: Hereditary Melanoma Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: BAP1; BRCA2; CDK4; CDKN2A*; MC1R; MITF*; POT1; PTEN*; RB1*; TERT; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Melanoma Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication
 (2010214) 

Recommended use: Confirm hereditary cause of renal cancer in individuals with a personal or family history

Learn more: Hereditary Renal Cancer Panel | Test Fact Sheet (arupconsult.com)

Genes tested: BAP1; DICER1; EPCAM**; FH; FLCN*; MET; MLH1; MSH2; MSH6; PMS2; PTEN*; SDHA*; SDHB; SDHC*; SDHD*; SMARCA4; SMARCB1; TP53; TSC1; TSC2; VHL*

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; refer to Hereditary Renal Cancer Panel | Test Fact Sheet (arupconsult.com)

**Deletion/duplication analysis of EPCAM exon 9 only, sequencing is not available for this gene.

Birt-Hogg-Dube Syndrome (FLCN) Sequencing and Deletion/Duplication (3005703) 

Recommended use: Diagnose or predict  Birt-Hogg-Dubé syndrome

Affected individuals have an increased risk of developing cysts in the lungs, air leakage into the pneumothorax, and renal tumors or cutaneous skin tumors

Learn more: Birt-Hogg-Dubé Syndrome | Test Fact Sheet (arupconsult.com)

Gene tested: FLCN

Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication (3001615)

Recommended use: Assess for germline variants associated with hereditary bone marrow failure syndromes or hereditary predisposition to myeloid neoplasms

Learn more: Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

Genes tested: ACD; ALAS2; ANKRD26; ATM; BLM; BRCA1*; BRCA2; BRIP1; CBL; CEBPA**; CSF3R; CTC1; CXCR4*; DDX41; DKC1; DNAJC21*; ELANE; ERCC4; ERCC6L2*; ETV6; FANCA*; FANCB; FANCC; FANCD2*; FANCE; FANCF; FANCG; FANCI; FANCL*; G6PC3; GATA1; GATA2; GFI1; HAX1; HOXA11; IKZF1; KRAS; MBD4; MPL; MYH9; NBN; NHP2; NOP10**; NRAS; PALB2; PARN; PTPN11; RAD51C; RMRP**; RPL11; RPL15**; RPL26; RPL35A; RPL5; RPS10; RPS19; RPS24; RPS26; RPS7; RTEL1; RUNX1; SAMD9; SAMD9L; SLX4; SRP72; TERC***; TERT; TET2; TINF2; TP53; UBE2T; USB1; VPS45; WAS; WRAP53

*One or more exons are not covered by sequencing for the indicated gene; refer to Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication | Test Fact Sheet (arupconsult.com)

**Deletion/duplication detection is not available for this gene

***Duplication detection is not available for this gene

Hereditary Myeloid Neoplasms Panel, Sequencing (3001842)

Recommended use:  Assess for germline variants associated with hereditary predisposition to myeloid neoplasms

Learn more: Hereditary Myeloid Neoplasms Panel, Sequencing | Test Fact Sheet (arupconsult.com)

Genes tested: ANKRD26*; ATM; BLM; CBL; CEBPA; DDX41; ELANE; ETV6; GATA1; GATA2; KRAS; NBN; PTPN11*; RUNX1; SAMD9; SAMD9L; SRP72*; TERC; TERT; TP53

*One or more exons are not covered by sequencing for the indicated gene; refer to Hereditary Myeloid Neoplasms Panel, Sequencing | Test Fact Sheet (arupconsult.com)
Familial Targeted Sequencing
When a pathogenic variant associated with a hereditary cancer syndrome is identified in an individual, testing for the familial variant should be offered to at-risk family members for early screen or clinical management.

Familial Targeted Sequencing (3005867)

Recommended use: Test for a previously identified familial sequence variant

Genes tested: Refer to 3005867 on the ARUP Laboratory Test Directory

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