ARUP Hereditary Cancer Panel Comparison

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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.

 

 

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Hereditary Cancer Panel 2012032
Hereditary Breast and Gynecological Panel 2012026
Hereditary Breast Cancer Guidelines‐Based Panel 3005654
Hereditary Breast Cancer High‐Risk Panel 3005632
BRCA1 and BRCA2‐Associated HBOC Syndrome Panel 3001855
Hereditary Gastrointestinal Cancer Panel 2013449
Hereditary Gastric Cancer Panel, Sequencing and Deletion/​Duplication 3005963
Hereditary Gastrointestinal Cancer High‐Risk Panel 3005697
Lynch Syndrome Panel 3001605
APC‐ and MUTYH‐Associated Polyposis Panel 3004407
Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/​Duplication 3001633
Hereditary Renal Cancer Panel 2010214
Hereditary Pancreatic Cancer Panel 3005708
Hereditary Prostate Cancer Panel 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

                                 
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