WT1 gene tests measure changes in the WT1 (Wilms tumor 1) gene and its product — including DNA sequence variants (germline or somatic mutations), copy-number changes, and the amount of WT1 RNA or protein expressed in cells. Methods include sequencing (NGS/PCR) to detect mutations and variant allele frequency, quantitative PCR to measure WT1 mRNA levels, and immunohistochemistry to detect WT1 protein in tissue.

As cancer indicators, these results can signal different things: pathogenic WT1 mutations are associated with tumor development (classically Wilms tumor and certain leukemias), while elevated WT1 expression is commonly used as a marker of disease burden and minimal residual disease in acute leukemias and some solid tumors. Tests are therefore used for diagnosis, prognostic assessment, and monitoring treatment response or relapse, depending on the cancer type and clinical context.

WT1 levels are measured from biological samples collected by standard clinical procedures: for blood cancers (like AML) a peripheral blood draw or a bone‑marrow aspirate is typically used; for solid tumors WT1 is usually measured on tumor tissue obtained by biopsy or surgical resection. Collection is performed by trained clinicians using routine phlebotomy, bone‑marrow aspiration, or tissue‑biopsy techniques and the specimen is placed into appropriate transport media for molecular testing or immunohistochemistry.

After collection the sample is processed in a laboratory using PCR‑based assays or protein staining to quantify WT1; handling and tube type vary by test, so samples are sent to the lab promptly under recommended conditions. Talk with your healthcare provider or the testing laboratory about which sample type and collection method apply to your specific WT1 test and what the results are intended to monitor (not a standalone clinical diagnosis).

A WT1 gene test can measure either DNA changes (mutations) or WT1 RNA/protein expression levels; results help in two main ways. A pathogenic germline WT1 mutation indicates an inherited higher risk for Wilms tumor and related syndromes, while somatic WT1 mutations or abnormal WT1 expression in tumor or blood samples can act as a cancer-associated marker (commonly used in certain leukemias and in monitoring disease activity). Elevated or newly detected WT1 in blood/tumor may suggest cancer presence or recurrence, whereas a normal result reduces but does not eliminate risk.

Results have limits: some findings are variants of uncertain significance and need expert interpretation, and test type and clinical context determine how informative the result is. Use the test result as one piece of information alongside imaging, pathology and medical history, and discuss its implications and any recommended follow-up with your healthcare team or a genetic counselor.

WT1 tests can be a useful indicator in certain cancers (for example as a diagnostic/prognostic marker in some leukemias and as an expression marker in some solid tumors), but their accuracy varies widely by what exactly is measured (protein by immunohistochemistry, RNA by RT‑PCR, or DNA changes by sequencing), by the disease context, and by assay quality. Sensitivity and specificity are assay- and disease‑dependent, so false negatives and false positives do occur—technical factors (sample quality, tumor heterogeneity) and interpretive variability (especially with IHC) affect reliability.

For these reasons WT1 results are considered supportive rather than definitive: they are most reliable when run in validated, accredited laboratories and interpreted alongside morphology, cytogenetics and other molecular markers by a pathologist/oncologist. Clinical decisions should never rely solely on a single WT1 test result.

Testing frequency for WT1 levels varies with the type of cancer (most commonly used in AML/MDS), the treatment phase and whether you’re monitoring for minimal residual disease. Typical practice is to measure WT1 at diagnosis and after induction/consolidation therapy, then more frequently during active follow‑up — often every 1–3 months initially — and less frequently (for example every 3–6 months) once a patient is clinically stable, though exact intervals differ by center and clinical context.

Because timing is individualized based on disease status, MRD results, and your care plan, follow the testing schedule your hematologist/oncologist recommends and discuss any changes in risk or symptoms with them so test frequency can be adjusted appropriately.

No — WT1 gene test results are not by themselves diagnostic. They highlight patterns of imbalance or resilience in WT1 expression or variants that may be associated with cancer or other conditions, but they do not establish a medical diagnosis.

Test results must be interpreted alongside symptoms, medical history, imaging, histopathology and other laboratory or biomarker data by a qualified clinician who can integrate all information and recommend further testing or treatment as needed.

WT1 is used mainly as a molecular marker of disease burden (especially in hematologic malignancies); you don’t “fix” WT1 levels directly — they usually change only when the underlying cancer is treated or controlled. The appropriate step after an abnormal or rising WT1 result is to review it with your treating hematologist/oncologist (and the laboratory that performed the assay) so results can be interpreted in the clinical context and management adjusted as needed — for example by changing, intensifying, or resuming systemic therapy, or enrolling in a clinical trial if applicable.

Routine supportive measures (healthy diet, exercise, smoking cessation) help overall well‑being but are unlikely to meaningfully lower a cancer‑associated WT1 signal on their own. Ask your team about planned monitoring frequency for minimal residual disease, whether WT1‑directed investigational therapies or other targeted options are available, and act promptly on any rising trend in serial tests. Treatment changes and decisions should always be made by your oncology team.