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WT1 Mutation Analysis Test

Last updated July 26, 2019

Approved by: Krish Tangella MD, MBA, FCAP

The WT1 Mutation Analysis Test detects abnormalities in the WT1 gene. It is used to diagnose kidney, ovarian, and testicular cancer and developmental problems.

What are other Names for this Test? (Equivalent Terms)

  • Wilms Tumor Protein Gene Mutation Analysis Test
  • WIT-2 Mutation Analysis Test
  • WT33 Mutation Analysis Test

What is WT1 Mutation Analysis Test? (Background Information)

  • WT1 refers to an alteration in the WT1 gene. It is associated with cancer and disorders of the kidneys, ovaries, and testes
  • The WT1 gene gives instructions for the WT1 protein. WT1 helps control growth and division of cells that make up the kidneys, ovaries, and testes
  • WT1 is called a transcription factor. It controls the process of converting genetic material into RNA (transcription). RNA is then converted into protein
  • WT1 regulates growth and division by controlling the transcription of genes relevant to these processes in cells. It is active in cells that control the maintenance and development of kidney, ovary, and testicular tissues
  • Because of its role in controlling growth and division of cells, WT1 is called a tumor suppressor. By restraining cell proliferation, WT1 protects an individual from cancer
  • Alterations to the WT1 gene may result in a WT1 protein that is defective. The defective WT1 protein is unable to serve as a transcription factor and regulate cell division and growth. This may result in tissue abnormalities and cancer
  • The WT1 Mutation Analysis Test detects abnormalities in the WT1 gene. It is used to diagnose kidney, ovarian, and testicular cancer and developmental problems

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization technique, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for the test may vary from one laboratory to another. 

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the WT1 Mutation Analysis Test?

Following are the clinical indications for performing the WT1 Mutation Analysis Test:

  • Cough
  • Decreased urine output
  • Foamy appearance of urine
  • Low birth weight
  • Poor appetite
  • Swelling (total body)
  • Fever or chills
  • Persistent fatigue, weakness
  • Frequent or severe infections
  • Losing weight without trying
  • Swollen lymph nodes, enlarged liver or spleen
  • Easy bleeding or bruising
  • Recurrent nosebleeds
  • Tiny red spots in your skin (petechiae)
  • Excessive sweating, especially at night
  • Bone pain or tenderness

In general, the molecular genetic testing is undertaken in the following situations:

  • To assist (and in some cases, confirm) the initial diagnosis
  • To distinguish other tumors/conditions that have similar histological features, when examined by a pathologist under the microscope
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen collected for WT1 Mutation Analysis Test?

Following is the specimen collection process for WT1 Mutation Analysis Test:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample on which the test is performed may include:
    • Fresh tumor tissue during biopsy
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility


  • In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

Cost of WT1 Mutation Analysis Test:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the WT1 Mutation Analysis Test Result?

The presence of a mutation in the WT1 gene indicates a positive result for the WT1 Mutation Analysis Test. This may point to a diagnosis of any of the following:

  • Congenital nephrotic syndrome
  • Cytogenically normal acute myeloid leukemia (CN-AML)
  • Denys-Drash syndrome
  • Frasier syndrome
  • Prostate cancer
  • WAGR syndrome

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • The WT1 gene resides on a position of the chromosome called 11p13 i.e., the short (p) arm of chromosome 11 in location 13
  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider, the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

The following DoveMed website link is a useful resource for additional information:


Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 29, 2017
Last updated: July 26, 2019