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Test Code PRS8P Hereditary Prostate Cancer Panel, Varies


Ordering Guidance


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 a Oncology Test Request (T729) with the specimen.

Secondary ID

614576

Useful For

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

 

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

 

Identifying genetic variants associated with increased risk for prostate 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 Prostate 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

Hereditary prostate cancer accounts for approximately 5% to 10% of all prostate cancer cases and up to half of all early-onset prostate cancer cases.(1-3) Evaluation of the genes on this panel may be useful for families with a history of prostate cancer to determine cancer risk, surveillance recommendations, and targeted treatments (such as poly adenosine diphosphate-ribose polymerase [PARP] inhibitor therapy).(4,5)

 

The 2 most common hereditary prostate cancer syndromes are hereditary breast and ovarian cancer (HBOC) syndrome and Lynch syndrome.(3-5)

 

HBOC syndrome is caused by disease-causing variants in the BRCA1 and BRCA2 genes. Individuals with HBOC syndrome are also at increased risk for multiple cancer types, including prostate cancer.(5)

 

Lynch syndrome is caused by variants in the MLH1, MSH2, MSH6, and PMS2 mismatch-repair genes and deletions of the EPCAM gene. A subset of these patients present with prostate cancer.(3-5)

 

This panel includes other genes known to increase prostate cancer risk.(3-5) 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.(4)

 

The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with hereditary prostate cancer syndromes.(4,5)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) 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, 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 are 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 and specific gene regions not routinely covered see Targeted Genes and Methodology Details for Hereditary Prostate 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, BRIP1, CHEK2, EPCAM (copy number variants only), FANCA, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51B, RAD51C, RAD51D, 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

81408

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PRS8P Hereditary Prostate Cancer Panel 100213-8

 

Result ID Test Result Name Result LOINC Value
614803 Test Description 62364-5
614804 Specimen 31208-2
614805 Source 31208-2
614806 Result Summary 50397-9
614807 Result 82939-0
614808 Interpretation 69047-9
614809 Resources 99622-3
614810 Additional Information 48767-8
614811 Method 85069-3
614812 Genes Analyzed 48018-6
614813 Disclaimer 62364-5
614814 Released By 18771-6