medicine · consultation topic

Rare diseases and genetics

The DGS provides programmes relating to some hereditary diseases and references to centres of expertise for rare diseases.

About the topic

The DGS provides programmes relating to some hereditary diseases and references to centres of expertise for rare diseases.

Who it is for

This page brings together information for people seeking to understand Rare diseases and genetics.

Taking part in assessment

Explain your concerns and relevant history. Ask what is being assessed and request clarification if an explanation is unclear.

Prepare for your appointment

Note the main questions you want answered and how the symptoms have developed. Have a list of the medicines and supplements you use available to discuss with the professional.

Plan and next steps

Before finishing, clarify what has been agreed, how to obtain any results and when to contact the professional again. Ask for written instructions if needed.

Limits

The information on this page does not replace an individual assessment. The existence of a page does not confirm availability of an appointment or format.

Frequently asked questions

Are all hereditary diseases the same?

No. The source describes programmes for different groups of hereditary diseases.

Sources

DGS Doenças raras — DGS