Use the table below to compare gene contents and ordering recommendations for select ARUP hereditary cancer panels. For additional test options, refer to the Laboratory Test Directory.

Filter by genes to identify relevant ARUP tests. Click on gene or test titles to display additional details. Please note: These features are optimized for use on a desktop platform. Some functionality may not be available on mobile.

Please note the following indications for genetic testing:

Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval.
If a familial variant has previously been identified, testing should be performed for that specific variant using Familial Targeted Sequencing 3005867.
For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.

Filter gene rows Test Gene Filter ARUP tests	Hereditary Cancer Panel, Sequencing and Deletion/Duplication 2012032	Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication 2012026	Hereditary Breast Cancer Guidelines‐Based Panel, Sequencing and Deletion/Duplication 3005654	Hereditary Breast Cancer High‐Risk Panel, Sequencing and Deletion/Duplication 3005632	BRCA1 and BRCA2‐Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication 3001855	Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication 2013449	Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication 3005963	Hereditary Gastrointestinal Cancer High‐Risk Panel, Sequencing and Deletion/Duplication 3005697	Lynch Syndrome Panel, Sequencing and Deletion/Duplication 3001605	APC‐ and MUTYH‐Associated Polyposis Panel, Sequencing and Deletion/Duplication 3004407	Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication 3001633	Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication 2010214	Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication 3005708	Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication 3005686	Hereditary Melanoma Panel, Sequencing and Deletion/Duplication 3002673	Hereditary Paraganglioma‐Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication 3005912	Hereditary Paraganglioma‐Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication 3004480	Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication 3005944
ALK 105590 ALK-related neuroblastic tumor susceptibility Ganglioneuroblastoma, ganglioneuroma, neuroblastoma Inheritance: Autosomal dominant	✔										✔
APC 611731 Familial adenomatous polyposis (FAP) Attenuated familial adenomatous polyposis (AFAP) Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) Colorectal adenomas and cancer, duodenal adenomas and cancer, gastric fundic gland polyps, medulloblastoma, osteomas, pancreatic, thyroid, and others Inheritance: Autosomal dominant	✔					✔	✔	✔		✔	✔		✔					✔
ATM 607585 Breast, colorectal, ovarian, pancreatic, prostate Inheritance: Autosomal dominant Ataxia-telangiectasia Inheritance: Autosomal recessive	✔	✔	✔										✔	✔
AXIN2 604025 Oligodontia-colorectal cancer syndrome (ODCRCS) Colorectal, polyposis Inheritance: Autosomal dominant	✔					✔
BAP1 603089 BAP1 tumor predisposition syndrome (BAP1-TPDS) BAP1-inactivated melanocytic tumors, basal cell carcinoma, cutaneous melanoma, malignant mesothelioma, renal cell carcinoma, uveal melanoma Inheritance: Autosomal dominant	✔											✔			✔
BARD1 601593 Breast Inheritance: Autosomal dominant	✔	✔	✔
BMPR1A 601299 Juvenile polyposis syndrome (JPS) Colorectal, juvenile polyps, small intestine, stomach Inheritance: Autosomal dominant	✔					✔	✔
BRCA1 113705 Hereditary breast and ovarian cancer (HBOC) syndrome Breast, fallopian tube, ovarian, pancreatic, peritoneal, prostate Inheritance: Autosomal dominant Fanconi anemia, complementation group S Inheritance: Autosomal recessive	✔	✔	✔	✔	✔								✔	✔
BRCA2 600185 Hereditary breast and ovarian cancer (HBOC) syndrome Breast, fallopian tube, melanoma, ovarian, pancreatic, peritoneal, prostate Inheritance: Autosomal dominant Fanconi anemia, complementation group D1 Inheritance: Autosomal recessive	✔	✔	✔	✔	✔								✔	✔	✔
BRIP1 605882 Breast, ovarian Inheritance: Autosomal dominant Fanconi anemia, complementation group J Inheritance: Autosomal recessive	✔	✔
CDC73 607393 CDC73-related disorders Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism/parathyroid carcinoma, kidney lesions/tumors Inheritance: Autosomal dominant	✔
CDH1 192090 Hereditary diffuse gastric cancer (HDGC) Diffuse gastric, lobular breast Inheritance: Autosomal dominant	✔	✔	✔	✔		✔	✔
CDK4 123829 Cutaneous melanoma, pancreatic Inheritance: Autosomal dominant	✔												✔		✔
CDKN1B 600778 Multiple endocrine neoplasia (MEN) Type 4 Gastrinoma, gastro-entero-pancreatic (GEP), nonendocrine, parathyroid, pituitary Inheritance: Autosomal dominant	✔
CDKN2A 600160 Familial atypical multiple mole melanoma-pancreatic carcinoma (FAMMM-PC) syndrome (also known as melanoma-pancreatic cancer syndrome) Cutaneous melanoma, pancreatic Inheritance: Autosomal dominant	✔												✔		✔
CHEK2 604373 Breast, colorectal, prostate, thyroid Inheritance: Autosomal dominant	✔	✔	✔			✔								✔
CTNNA1 116805 Breast, stomach Inheritance: Autosomal dominant	✔						✔
DICER1 606241 DICER1-related disorders Pleuropulmonary blastoma, ovarian sex cord-stromal tumors, cystic nephroma, thyroid Inheritance: Autosomal dominant	✔	✔									✔	✔						✔
EGFR 131550 Lung Inheritance: Autosomal dominant	✔
EPCAM 185535 Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC) Brain, colorectal, endometrial, ovarian, pancreatic, prostate, renal pelvis and/or ureter, stomach, and others Inheritance: Autosomal dominant	✔	✔				✔	✔	✔	✔		✔	✔	✔	✔
FH 136850 FH tumor predisposition syndrome/hereditary leiomyomatosis and renal cell cancer (HLRCC) Cutaneous and uterine leiomyomata, papillary type 2 renal cancer, paraganglioma, pheochromocytoma Inheritance: Autosomal dominant Fumarase deficiency Inheritance: Autosomal recessive	✔											✔				✔
FLCN 607273 Birt-Hogg-Dubé syndrome (BHDS) Fibrofolliculomas, pulmonary cysts/history of pneumothorax, renal cancer Inheritance: Autosomal dominant	✔											✔
HOXB13 604607 Prostate Inheritance: Autosomal dominant	✔													✔
HRAS 190020 Costello syndrome Neuroblastoma, rhabdomyosarcoma, transitional cell carcinoma of the bladder Inheritance: Autosomal dominant	✔										✔
KIT 164920 Gastrointestinal stromal tumor (GIST) Inheritance: Autosomal dominant	✔					✔
LZTR1 600574 Schwannomatosis Inheritance: Autosomal dominant Noonan syndrome Inheritance: Autosomal recessive	✔										✔
MAX 154950 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Paraganglioma, pheochromocytoma Inheritance: Autosomal dominant	✔															✔
MC1R 155555 Cutaneous melanoma Inheritance: Autosomal dominant	✔														✔
MEN1 613733 Multiple endocrine neoplasia type 1 (MEN1) Adrenocortical, carcinoid, gastro-entero-pancreatic (GEP), neuroendocrine tumors, meningioma, parathyroid, pituitary, thyroid Inheritance: Autosomal dominant	✔										✔		✔			✔		✔
MET 164860 Hereditary papillary renal cell carcinoma (HPRCC) Papillary type 1 renal cancer	✔											✔
MITF 156845 Waardenburg syndrome type II Cutaneous melanoma	✔														✔
MLH1 120436 Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC) Brain, colorectal, endometrial, ovarian, pancreas, prostate, renal pelvis and/or ureter, stomach, and others Inheritance: Autosomal dominant Constitutional mismatch repair deficiency (CMMRD) Inheritance: Autosomal recessive	✔	✔				✔	✔	✔	✔		✔	✔	✔	✔
MLH3 120436 MLH3-associated polyposis Breast, colorectal, polyposis Inheritance: Autosomal dominant	✔					✔
MSH2 609309 Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC) Brain, colorectal, endometrial, ovarian, pancreas, prostate, renal pelvis and/or ureter, stomach, and others Inheritance: Autosomal dominant Constitutional mismatch repair deficiency (CMMRD) Inheritance: Autosomal recessive	✔	✔				✔	✔	✔	✔		✔	✔	✔	✔
MSH3 600887 Colorectal, polyposis Inheritance: Autosomal dominant	✔					✔
MSH6 600678 Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC) Brain, colorectal, endometrial, ovarian, pancreas, prostate, renal pelvis and/or ureter, stomach, and others Inheritance: Autosomal dominant Constitutional mismatch repair deficiency (CMMRD) Inheritance: Autosomal recessive	✔	✔				✔	✔	✔	✔		✔	✔	✔	✔
MUTYH 604933 Breast, colorectal Inheritance: Autosomal dominant MUTYH-associated polyposis (MAP) Colorectal adenomas and cancer, duodenal adenomas and cancer Inheritance: Autosomal recessive	✔					✔		✔		✔
NBN 602667 Breast, ovarian, prostate Inheritance: Autosomal dominant Nijmegan breakage syndrome (NBS) Inheritance: Autosomal recessive	✔	✔												✔
NF1 613113 Neurofibromatosis type 1 (NF1) Breast, gastrointestinal stromal tumor (GIST), gliomas, leukemia, malignant peripheral nerve sheath tumors, neurofibromas, pheochromocytoma Inheritance: Autosomal dominant	✔	✔	✔								✔					✔
NF2 607379 Neurofibromatosis type 2 (NF2) Astrocytoma, ependymoma, meningioma, schwannoma Inheritance: Autosomal dominant	✔										✔
NTHL1 602656 Colorectal, polyposis Inheritance: Autosomal recessive	✔					✔
PALB2 610355 Breast, ovarian, pancreas, prostate Inheritance: Autosomal dominant Fanconi anemia, complementation group N Inheritance: Autosomal recessive	✔	✔	✔	✔									✔	✔
PDGFRA 173490 Gastrointestinal stromal tumor (GIST), inflammatory fibroid polyp, fibroid tumor Inheritance: Autosomal dominant	✔					✔
PMS2 600259 Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC) Brain, colorectal, endometrial, ovarian, pancreas, prostate, renal pelvis and/or ureter, stomach, and others Inheritance: Autosomal dominant Constitutional mismatch repair deficiency (CMMRD) Inheritance: Autosomal recessive	✔	✔				✔	✔	✔	✔		✔	✔	✔	✔
POLD1 174761 Polymerase proofreading-associated polyposis (PPAP) Colorectal, polyposis Inheritance: Autosomal dominant	✔					✔
POLE 174762 Polymerase proofreading-associated polyposis (PPAP) Colorectal, polyposis Inheritance: Autosomal dominant	✔					✔
POT1 606478 POT1 tumor predisposition syndrome Angiosarcoma, chronic lymphocytic leukemia, cutaneous melanoma, glioma Inheritance: Autosomal dominant	✔										✔				✔
PRKAR1A 188830 Carney complex Endocrine tumor or overactivity, myxoma, schwannoma Inheritance: Autosomal dominant	✔										✔							✔
PTCH1 601309 Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin syndrome Basal cell carcinoma, cardiac and ovarian fibromas, medulloblastoma Inheritance: Autosomal dominant	✔										✔
PTEN 601728 Cowden syndrome/PTEN hamartoma tumor syndrome Breast, colorectal, endometrial, Lhermitte-Duclos disease (cerebellar dysplastic gangliocytoma), melanoma a, renal cell carcinoma, thyroid, and others Inheritance: Autosomal dominant	✔	✔	✔	✔		✔					✔	✔			✔			✔
RAD51C 602774 Breast, ovarian Inheritance: Autosomal dominant Fanconi anemia, complementation group O Inheritance: Autosomal recessive	✔	✔
RAD51D 602954 Breast, ovarian, prostate Inheritance: Autosomal dominant	✔	✔												✔
RB1 614041 Hereditary retinoblastoma Melanoma, osteosarcoma, pinealoblastoma, retinoblastoma, retinoma, soft tissue sarcoma Inheritance: Autosomal dominant	✔										✔
RECQL 600537 Breast Inheritance: Autosomal dominant	✔	✔
RET 164761 Multiple endocrine neoplasia 2 (MEN2) Medullary thyroid carcinoma, parathyroid adenoma or hyperplasia, pheochromocytoma Inheritance: Autosomal dominant	✔															✔		✔
SDHA 600857 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Gastrointestinal stromal tumor (GIST), paraganglioma, pheochromocytoma, pulmonary chondroma, renal clear cell carcinoma	✔					✔						✔				✔	✔
SDHAF2 613019 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Paraganglioma Inheritance: Autosomal dominant	✔															✔
SDHB 185470 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Gastrointestinal stromal tumor (GIST), paraganglioma, pheochromocytoma, pulmonary chondroma, renal clear cell carcinoma Inheritance: Autosomal dominant	✔					✔						✔				✔	✔
SDHC 602413 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Gastrointestinal stromal tumor (GIST), paraganglioma, pheochromocytoma, pulmonary chondroma, renal clear cell carcinoma Inheritance: Autosomal dominant	✔					✔						✔				✔	✔
SDHD 602690 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Gastrointestinal stromal tumor (GIST), paraganglioma, pheochromocytoma, pulmonary chondroma, renal clear cell carcinoma Inheritance: Autosomal dominant	✔					✔						✔				✔	✔
SMAD4 600993 Juvenile polyposis syndrome (JPS), hereditary hemorrhagic telangiectasia (HHT) syndrome Colorectal, juvenile polyps, small intestine, stomach Inheritance: Autosomal dominant	✔					✔	✔
SMARCA4 603254 Coffin-Siris syndrome, rhabdoid tumor predisposition syndrome (RTPS) Rhabdoid tumors located in CNS, kidney, ovary (small cell carcinoma of the ovary hypercalcemic type [SCCOHT]), and others Inheritance: Autosomal dominant	✔	✔									✔	✔
SMARCB1 601607 Coffin-Siris syndrome, rhabdoid tumor predisposition syndrome (RTPS) Associated cancer(s)/tumor(s): Associated cancer(s)/tumor(s): rhabdoid tumors located in: CNS, kidney, and others; schwannomatosis Inheritance: Autosomal dominant	✔										✔	✔
SMARCE1 603111 Coffin-Siris syndrome Meningioma Inheritance: Autosomal dominant	✔										✔
STK11 602216 Peutz-Jeghers syndrome (PJS) Breast, cervix, colorectal, endometrial, lung, ovarian (sex cord with annular tubules), pancreas, Peutz-Jeghers-type hamartomatous polyps, small intestine, stomach, testes Inheritance: Autosomal dominant	✔	✔	✔			✔	✔						✔
SUFU 607035 Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin syndrome Basal cell carcinoma, cardiac and ovarian fibromas, medulloblastoma Inheritance: Autosomal dominant	✔										✔
TERT 187270 Dyskeratosis congenita Acute myelogenous leukemia, melanoma, pulmonary fibrosis Inheritance: Autosomal dominant and autosomal recessive	✔														✔
TMEM127 613403 Hereditary paraganglioma-pheochromocytoma (HPP) syndromes Paraganglioma, pheochromocytoma, renal clear cell carcinoma Inheritance: Autosomal dominant	✔															✔
TP53 191170 Li-Fraumeni syndrome (LFS) Adrenocortical carcinoma, breast, choroid plexus carcinoma, CNS, colorectal, melanoma, osteosarcoma, pancreas, prostate, renal, rhabdomyosarcoma, soft tissue sarcoma, stomach, thyroid, and others Inheritance: Autosomal dominant	✔	✔	✔	✔		✔	✔				✔	✔	✔	✔	✔			✔
TSC1 605284 Tuberous sclerosis complex (TSC) Cardiac rhabdomyoma, fibromas, renal angiomyolipoma, retinal and other hamartomas, subependymal giant cell astrocytoma (SEGA), and others Inheritance: Autosomal dominant	✔										✔	✔
TSC2 191092 Tuberous sclerosis complex (TSC) Cardiac rhabdomyoma, fibromas, renal angiomyolipoma, retinal and other hamartomas, subependymal giant cell astrocytoma (SEGA), and others Inheritance: Autosomal dominant	✔										✔	✔
VHL 608537 Von Hippel-Lindau (VHL) syndrome Endolymphatic sac tumors, epididymal and broad ligament cystadenomas, hemangioblastoma, neuroendocrine tumors, pheochromocytoma, renal cell carcinoma, retinal angioma Inheritance: Autosomal dominant	✔										✔	✔	✔			✔
WT1 607102 WT1 disorder Gonadoblastoma, Wilms tumor Inheritance: Autosomal dominant	✔
	Recommended test to confirm a hereditary cause of cancer in individuals with a personal or family history consistent with features of more than one cancer syndrome. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of breast and/or gynecological cancer(s) in individuals with a complex personal or family history of breast, ovarian, or endometrial cancer. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Germline analysis of moderate and high lifetime risk (>15%) hereditary breast cancer genes (including BRCA1 and BRCA2) for individuals with personal or family history of hereditary breast or other related cancers. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Germline analysis of high lifetime risk (>40%) hereditary breast cancer genes (including BRCA1 and BRCA2) for individuals with personal or family history of hereditary breast or other related cancers. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) syndrome. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of gastric cancer in individuals with a personal or family history of disease. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Germline analysis of genes associated with high-risk hereditary colorectal cancer syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP) or another APC-associated polyposis condition, and MUTYH-associated polyposis (MAP). Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a diagnosis of Lynch syndrome (LS) for individuals with a personal and/or family history consistent with LS. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended diagnostic or predictive test for APC-associated polyposis conditions (familial adenomatous polyposis [FAP], attenuated familial adenomatous polyposis [AFAP], gastric adenocarcinoma and proximal polyposis of the stomach [GAPPS]), and MUTYH-associated polyposis (MAP). Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of central nervous system (CNS) cancer in individuals with a personal or family history. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm hereditary cause of renal cancer in individuals with a personal or family history. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of pancreatic cancer in individuals with a personal or family history. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of prostate cancer in individuals with a personal or family history. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a hereditary cause of melanoma in individuals with a personal or family history of disease. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.	Recommended test to confirm a clinical diagnosis or family history of a hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome.	Use for germline analysis of genes associated with most common paraganglioma-pheochromocytoma syndromes.	Recommended test to confirm a hereditary cause of thyroid cancer in individuals with a personal or family history of thyroid cancer.
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