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The science of human genetics is rapidly evolving and new genetic causes for diseases are discovered almost on a daily basis. We now know that pathogenic (or damaging) variants in our DNA either directly cause disease or at least play a role in the pathogenesis of many disorders.
Genetics is becoming an integral part of any medical subspecialty and novel treatment approached such as gene therapy are explored in many areas of medicine.
It can be difficult to keep track of these rapid developments. We therefore wanted to give some guidance on which patients may benefit from a genetic evaluation.
This list is meant to be a guide but is by no means comprehensive. If you are not sure whether to refer a patient or if you have additional questions, please contact us any time!