Hello and welcome to the Zero to Finals podcast.

My name is Tom and in this episode I'm going to be talking to you about genetic testing.

And if you want to follow along with written notes on this topic,

you can follow along at Zero to Finals.com slash genetics slash testing

or in the genetic section of the zero to finals pediatrics book.

So let's get straight into it.

Genetic testing can be used to diagnose genetic conditions.

There are a number of different types of genetic tests that are outlined in this section.

Testing is done by clinical genetics departments in a specialist genetics lab.

There's a few potential scenarios where you may consider genetic testing.

The first is diagnostic testing.

Diagnostic testing involves testing a fetus or a person for a specific genetic condition.

We can test a fetus for a genetic condition via amniocentesis.

An example of this is antinatal testing for Down syndrome.

Antinatal testing can have implications on the decision to continue the pregnancy.

Where a specific condition is suspected,

for example, Turner syndrome, it's possible to test directly for that condition in a child or an adult. The next scenario is predictive testing. Predictive testing involves testing a person

for a specific gene mutation that has implications for them in the future.

I'll give two examples of this.

The first is the Bracker 1 breast cancer gene, which will give an indication of whether a person is at higher risk of developing breast cancer during their lifetime.

And the second is to test for

the autosomal dominant gene for Huntington's career, which will tell the person whether they're

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