BHD Toolkits

This page contains all of the posts from our BHD Toolkit series. In these posts, we try and break down some of the information relating to understanding different aspects of BHD. Want to understand your genetic testing result or find out more about the different types of scans you might have? These posts are for you!

If you have any suggestions for BHD Toolkit posts please let us know via email: contact@bhdsyndrome.org.

What is a mutation?

Our first BHD Toolkit explained what a mutation is, and the different types of folliculin mutations you see in BHD.

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Understanding your Genetic Test Result – DNA Mutations

This guide will help you understand your genetic test result and how to interpret the “code” you are given when you get your DNA sequencing results back.

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Understanding your Genetic Test Result – Amino Acid Mutations

Part 2 of “Understanding your Genetic Test Result” delved into amino acid mutations and gave you all the tools needed to interpret this part of your sequencing result.

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Getting your BHD Diagnosis

We spoke to Dr Derek Lim, Consultant Clinical Geneticist at Birmingham Women’s and Children’s Hospital, UK to help understand what happens at an appointment with a clinical geneticist.

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Explaining the Different Types of Scans

In this toolkit, we explained the different types of scans you may have and when and why you would have a particular type of scan.

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Explaining the Different Types of Healthcare Professionals

In this toolkit, we break down the different types of healthcare professionals you may come across and when you would see them.

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