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Test Code PANCP Hereditary Pancreatic Cancer Panel, Varies


Ordering Guidance


This test assesses for hereditary forms of pancreatic adenocarcinoma and not other pancreatic lesions such as pancreatic neuroendocrine tumors. For genetic testing for pancreatic neuroendocrine tumors, see ENDCP / Hereditary Endocrine Cancer Panel, Varies.

 

This test does not analyze genes associated with hereditary pancreatitis. For genetic testing for pancreatitis, see HPANP / Hereditary Pancreatitis Gene Panel, Varies.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Testing minors for adult-onset predisposition syndromes is discouraged by the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)

3. If not ordering electronically, complete, print, and send one of the following with the specimen:

-Oncology Test Request (T729)

-Gastroenterology and Hepatology Test Request (T728)

Secondary ID

614574

Useful For

Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome

 

Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated risks

 

Identifying genetic variants associated with increased risk for pancreatic cancer, allowing for predictive testing and appropriate screening of at-risk family members

 

Therapeutic eligibility with poly adenosine diphosphate-ribose polymerase (PARP) inhibitors based on certain gene alterations (eg, BRCA1, BRCA2)

Method Name

Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Hereditary Pancreatic Cancer Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Pancreatic cancer occurs in approximately 1.6% of individuals.(1) About 10% of these pancreatic cancers are caused by a hereditary predisposition that may also increase risk for other types of cancer.(2) In rare cases, individuals with a personal or family history of pancreatic cancer may be at increased risk of cancer due to a hereditary cancer syndrome. Evaluation of the genes on this panel may be useful to determine cancer risk, surveillance recommendations, and targeted treatments.(2,3)

 

A few of the most common hereditary pancreatic cancer syndromes are hereditary breast and ovarian cancer (HBOC) syndrome caused by variants in the BRCA1 and BRCA2 genes,(2,4) Lynch syndrome caused by variants in the MLH1, MSH2, MSH6, PMS2 mismatch-repair genes and deletions of the EPCAM gene, and familial atypical multiple mole melanoma syndrome (FAMMM) caused by variants in the CDKN2A gene.(2-5) Individuals with Peutz-Jeghers syndrome, caused by alterations within the STK11 gene, also have an increased risk of developing pancreatic cancer.(6)

 

Other genes are also known to cause hereditary pancreatic cancer. The risk of developing cancer associated with these syndromes varies. Some individuals with a disease-causing variant in one of these genes develop multiple primary cancers.(2)

 

The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with hereditary pancreatic cancer syndromes.(2,3,7)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(8) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletion/insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS, multiplex ligation-dependent probe amplification (MLPA), and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed. PCR and gel electrophoresis is performed to test for the presence of the 10-megabase inversion of coding exons 1-7 of the MSH2 gene.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. For details regarding the targeted genes analyzed or specific gene regions not routinely covered, see Targeted Genes and Methodology Details for Hereditary Pancreatic Cancer Panel.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Genes analyzed: ATM, BRCA1, BRCA2, CDKN2A, EPCAM (copy number variants only), MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53

Day(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81162

81292

81295

81298

81307

81317

81319

81351

81403

81404

81405

81408

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PANCP Hereditary Pancreatic Cancer Panel In Process

 

Result ID Test Result Name Result LOINC Value
614779 Test Description 62364-5
614780 Specimen 31208-2
614781 Source 31208-2
614782 Result Summary 50397-9
614783 Result 82939-0
614784 Interpretation 69047-9
614785 Resources 99622-3
614786 Additional Information 48767-8
614787 Method 85069-3
614788 Genes Analyzed 48018-6
614789 Disclaimer 62364-5
614790 Released By 18771-6