Definition

The WT1 gene (11p13) encodes a transcription factor involved in kidney and gonad development; heterozygous pathogenic variants lead to isolated Wilms tumor or syndromic forms. Denys-Drash syndrome (exon 8-9 missense variants) is characterized by the triad of diffuse mesangial sclerosis, early kidney failure, and gonadal dysgenesis; Frasier syndrome (intron 9 splice-site variants) is characterized by progressive focal segmental glomerulosclerosis and gonadoblastoma risk.

Gene/region examined

WT1 - Exon 1, WT1 - Exon 2, WT1 - Exon 3, WT1 - Exon 4, WT1 - Exon 5, WT1 - Exon 6, WT1 - Exon 7, WT1 - Exon 8, WT1 - Exon 9, WT1 - Exon 10

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Usually de novo germline variants; when inherited, autosomal dominant.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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