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Test ID: WILMP Hereditary Wilms Tumor 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. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

If the reason for testing indicates WAGR syndrome (Wilms tumor, aniridia, genitourinary abnormalities, range of developmental delays), order CMACB / Chromosomal Microarray, Congenital, Blood.



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. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

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


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.

Useful For

Evaluating isolated and syndromic causes of Wilms tumor

 

Establishing a diagnosis to guide management for individuals with Wilms tumor

 

Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 9 genes associated with hereditary Wilms tumor: BLM, BUB1B, CDC73, DIS3L2, GPC3, REST, TP53, TRIP13, WT1. See Method Description and Targeted Genes and Methodology Details for Hereditary Wilms Tumor Panel for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary causes of Wilms tumor.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Hereditary Wilms Tumor Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Hereditary predisposition to Wilms tumor encompasses a heterogeneous group of syndromic and nonsyndromic conditions. A comprehensive diagnostic genetic test is useful to help determine a molecular etiology for Wilms tumor and, therefore, identify other potential risks and ascertain the inheritance pattern and recurrence risk within a family.

 

Approximately 10% to 15% of individuals with Wilms tumor have a genetic etiology that can be identified.(1) The most common genetic cause of Wilms tumor is disease-causing variants in the WT1 gene.(1) There are several other genes that also can increase Wilms tumor risk, including BLM, BUB1B, CDC73, DIS3L2, GPC3, REST, TP53, and TRIP13. Individuals with syndromic Wilms tumor may have involvement of other organs.(1)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(2) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Turner JT, Brzezinski J. Dome JS. Wilms tumor predisposition. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated March 24, 2022. Accessed November 9, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1294/

2. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424

Day(s) Performed

Varies

Report Available

21 to 28 days

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

81351

81405

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WILMP Hereditary Wilms Tumor Panel 101671-6

 

Result ID Test Result Name Result LOINC Value
614887 Test Description 62364-5
614888 Specimen 31208-2
614889 Source 31208-2
614890 Result Summary 50397-9
614891 Result 82939-0
614892 Interpretation 69047-9
614893 Resources 99622-3
614894 Additional Information 48767-8
614895 Method 85069-3
614896 Genes Analyzed 48018-6
614897 Disclaimer 62364-5
614898 Released By 18771-6
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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