Definition

A deletion involving the SRY gene in the Yp11.31 region, or loss of this region through translocation, prevents testis development from starting in 46,XY individuals, leading to complete or partial gonadal dysgenesis and 46,XY disorder of sex development. SRY is the main gene on the Y chromosome that encodes the testis-determining factor; its deletion is one of the defined causes of Swyer syndrome.

Method

FISH analysis

Accepted sample types

Amniotic fluid, Chorionic villus, Cord blood

Inheritance

Usually de novo (deletion/translocation occurring on the Y chromosome).

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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