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Common Hereditary Cancer Screening Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
15723 APC 81201,81203 Order Options and Pricing
ATM 81408,81479
AXIN2 81479,81479
BAP1 81479,81479
BARD1 81479,81479
BMPR1A 81479,81479
BRCA1 and BRCA2 81162
BRIP1 81479,81479
CDH1 81406,81479
CDK4 81479,81479
CDKN1B 81479,81479
CDKN2A 81404,81479
CHEK2 81479,81479
CTNNA1 81479,81479
DICER1 81479,81479
EGFR 81479,81479
EPCAM 81479,81403
FH 81405,81479
FLCN 81479,81479
GREM1 81479,81479
HOXB13 81479,81479
KIT 81479,81479
MEN1 81405,81404
MET 81479,81479
MITF 81479,81479
MLH1 81292,81294
MLH3 81479,81479
MSH2 81295,81297
MSH3 81479,81479
MSH6 81298,81300
MUTYH 81406,81479
NF1 81408,81479
NTHL1 81479,81479
PALB2 81307,81479
PDGFRA 81479,81479
PMS2 81317,81319
POLD1 81479,81479
POLE 81479,81479
PTEN 81321,81323
RAD51C 81479,81479
RAD51D 81479,81479
RET 81406,81479
SDHA 81406,81479
SDHB 81405,81479
SDHC 81405,81404
SDHD 81404,81479
SMAD4 81406,81405
SMARCA4 81479,81479
STK11 81405,81404
TERT 81479,81479
TP53 81405,81479
TSC1 81406,81405
TSC2 81407,81406
VHL 81404,81403
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
15723Genes x (55)81479 81162(x1), 81201(x1), 81203(x1), 81292(x1), 81294(x1), 81295(x1), 81297(x1), 81298(x1), 81300(x1), 81307(x1), 81317(x1), 81319(x1), 81321(x1), 81323(x1), 81403(x2), 81404(x6), 81405(x8), 81406(x7), 81407(x1), 81408(x2), 81479(x67) $590 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for single genes or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Hereditary cancer syndromes have been observed in approximately 5-10% of diagnosed cancers. Hereditary cancers tend to occur at an earlier age (<50 years), and tumors often occur bilaterally or are multifocal. Multiple family members are often affected. Hereditary cancers may include a less frequently affected gender (breast cancer in males), can be associated with other clinical features, and occur with a higher predisposition in specific ethnicities, such as the Ashkenazi Jewish population (Lindor et al. 2008. PubMed ID: 18559331).

Testing asymptomatic and symptomatic individuals at increased risk of a hereditary cancer syndrome may inform genetic counseling, screening, prevention strategies, and treatment (Weitzel et al. 2011. PubMed ID: 21858794; ACOG. 2019. PubMed ID: 31764758). Multigene panel testing may be considered if an individual’s personal or family history may be explained by one or more types of hereditary cancer syndromes (Robson et al. 2015. PubMed ID: 26324357). It also may be considered if a positive finding will impact medical management for the individual or their at-risk family members.

This 55-gene panel identifies hereditary risk associated with at least 11 common types of cancer: breast, ovarian, uterine, prostate, colorectal, pancreatic, gastric, renal, lung, endocrine, and skin. Additional types of cancer, polyposis predisposition, and cancer-related syndromes are also included. Of note, several genes on this panel are associated with rare autosomal recessive cancer-related syndromes that may pose a risk to offspring if an individual’s partner is also a carrier.

The panel includes clinically actionable genes with medical society guidelines available on risk management for carriers of pathogenic germline variants, as well as genes with emerging cancer associations (Miller et al. 2022. PubMed ID: 35802134; Pluchino and D'Amico. 2020. PubMed ID: 32298647).

Genetics

Hereditary cancers associated with genes on this panel typically have an early age of onset and display autosomal dominant inheritance. However, autosomal recessive inheritance is also reported (MUTYH and NTHL1, for example). Most pathogenic variants are inherited from one or both parents. In some instances, pathogenic variants may arise de novo (PTEN and TP53, for example). 

The genes on this panel are involved in DNA repair, cell cycle checkpoint regulation, maintenance of genomic stability, and other biological functions (Lee and Muller. 2010. PubMed ID: 20719876). See individual gene summaries for information about the molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity for this panel is highly dependent on the type of cancer, patient, age, and personal and family history. A study of 165,000 individuals that underwent multigene germline panel testing for hereditary cancer predisposition reported pathogenic variants in 8.1% to 13.8% of tested individuals depending on cancer type (LaDuca et al. 2020. PubMed ID: 31406321).

Testing Strategy

This test is performed using Next Generation Sequencing (NGS) with additional Sanger sequencing as necessary.

This panel typically provides approximately 97.97% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. Coverage is defined as ≥20X NGS reads or Sanger sequencing.

Indications for Test

Testing may be considered for individuals with

  • Multiple primary tumors that are suspicious for hereditary cancer.
  • Multiple close family members with tumors that are suspicious for hereditary cancer.
  • Multiple tumor types in the individual or family members.
  • Previous genetic testing was uninformative for an individual with a personal or family history that is suspicious for hereditary cancer.

This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Diseases

Name Inheritance OMIM ID
Ataxia-Telangiectasia Syndrome AR 208900
Basal cell carcinoma 7 AD 614740
Birt-Hogg-Dube Syndrome AD 135150
Blepharocheilodontic syndrome 1 AD 119580
Bone marrow failure syndrome 5 AD 618165
Breast-Ovarian Cancer, Familial 1 AD 604370
Breast-Ovarian Cancer, Familial 2 AD 612555
Breast-Ovarian Cancer, Familial 3 AD 613399
Breast-Ovarian Cancer, Familial 4 AD 614291
Choroid Plexus Papilloma AD 260500
Coffin-Siris Syndrome 4 AD 614609
Colorectal cancer, susceptibility to, 10 AD 612591
Colorectal cancer, susceptibility to, 12 AD 615083
COMMAD syndrome AR 617306
Cowden Disease AD 158350
Desmoid Disease, Hereditary AD 135290
Dyskeratosis Congenita, Autosomal Dominant, 2 AR 613989
Erythrocytosis, Familial, 2 AR 263400
Familial Adenomatous Polyposis 3 AR 616415
Familial Adenomatous Polyposis 4 AR 617100
Familial Medullary Thyroid Carcinoma AD 155240
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group J AR 609054
Fanconi Anemia, Complementation Group N AR 610832
Fanconi Anemia, Complementation Group O AR 613390
Fanconi Anemia, Complementation Group S AR 617883
FILS syndrome AR 615139
Fumarase Deficiency AR 606812
Gastric adenocarcinoma and proximal polyposis of the stomach AD 619182
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial AD 175510
Gastrointestinal Stromal Tumors AD 606764
Glioma Susceptibility 1 AD 137800
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors AD 138800
Hereditary Diffuse Gastric Cancer AD 137215
Hereditary Leiomyomatosis And Renal Cell Cancer AD 150800
Hereditary Mixed Polyposis Syndrome 2 AD 610069
Hereditary Nonpolyposis Colorectal Cancer Type 4 AD 614337
Hereditary Nonpolyposis Colorectal Cancer Type 5 AD 614350
Hereditary Nonpolyposis Colorectal Cancer Type 7 AD 614385
Hereditary Nonpolyposis Colorectal Cancer Type 8 AD 613244
IMAGE-I syndrome AR 618336
Juvenile Polyposis Syndrome AD 174900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Li-Fraumeni Syndrome AD 151623
Li-Fraumeni Syndrome 2 AD 609265
Lung Cancer AD 211980
Lynch Syndrome I AD 120435
Lynch Syndrome II AD 609310
Macrocephaly/Autism Syndrome AD 605309
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome AD 615381
Mastocytosis, cutaneous AD 154800
Melanoma, Cutaneous Malignant 3 AD 609048
Melanoma, Cutaneous Malignant, 9 615134
Melanoma, cutaneous malignant, susceptibility to, 8 614456
Melanoma-Pancreatic Cancer Syndrome AD 606719
Mismatch repair cancer syndrome 2 AR 619096
Mismatch repair cancer syndrome 3 AR 619097
Mismatch repair cancer syndrome 4 AR 619101
Mitochondrial Complex II Deficiency AR 252011
Mitochondrial complex II deficiency, nuclear type 3 AR 619167
Mitochondrial complex II deficiency, nuclear type 4 AR 619224
Muir-Torre Syndrome AD 158320
Multiple Endocrine Neoplasia, Type 1 AD 131100
Multiple Endocrine Neoplasia, Type 2A AD 171400
Multiple Endocrine Neoplasia, Type 2B AD 162300
Multiple Endocrine Neoplasia, Type IV AD 610755
Myh-Associated Polyposis AR 608456
Myhre Syndrome AD 139210
Neurodegeneration with ataxia and late-onset optic atrophy AD 619259
Neurofibromatosis, Type 1 AD 162200
Oligodontia-Colorectal Cancer Syndrome AD 608615
Pancreatic Cancer 2 AD 613347
Pancreatic Cancer 3 AD 613348
Pancreatic Cancer 4 AD 614320
Paraganglioma And Gastric Stromal Sarcoma AD 606864
Paragangliomas 1 AD 168000
Paragangliomas 3 AD 605373
Paragangliomas 4 AD 115310
Paragangliomas 5 AD 614165
Partial Albinism AD 172800
Peutz-Jeghers Syndrome AD 175200
Pheochromocytoma AD 171300
Pleuropulmonary Blastoma AD 601200
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 AD 614742
Rhabdoid Tumor Predisposition Syndrome 2 AD 613325
Tietz Syndrome AD 103500
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Tumor Predisposition Syndrome AD 614327
Turcot Syndrome AR 276300
Von Hippel-Lindau Syndrome AD 193300
Waardenburg Syndrome, Type 2A AD 193510
Watson Syndrome AD 193520
{Prostate cancer, hereditary, 9} 610997

Related Test

Name
PGxome®
Cancer Panel

Citations

  • American College of Obstetricians and Gynecologist. 2019. PubMed ID: 31764758
  • LaDuca et al. 2020. PubMed ID: 31406321
  • Lee and Muller. 2010. PubMed ID: 20719876
  • Lindor et al. 2008. PubMed ID: 18559331
  • Miller et al. 2022. PubMed ID: 35802134
  • Pluchino and D'Amico. 2020. PubMed ID: 32298647
  • Robson et al. 2015. PubMed ID: 26324357
  • Weitzel et al. 2011. PubMed ID: 21858794

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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