Patient has the following experiences with the geneticist

The first laboratory result from 2019 was “no clinically relevant variant”.

This was the period when some mutations were no longer reported by the laboratory.

During an interview with a geneticist in 2022, she had the following experiences:

  • Praxis initially wanted to cancel the appointment because genetics for Fabry disease had already been done.
  • Genetics were initially denied, only enzyme activity should be tested. If the enzyme activity was normal, she would not have Fabry either.
  • Patient insisted on genetic testing.
  • Patient asked to be informed about the disputed mutations as well. The doctor (not a Fabry specialist) informed her that these are not disease-causing.

Other comments from the doctor:

  • Females would have few complaints as they have two X chromosomes and one balances the other.
  • Symptoms could also have another cause.
  • Symptoms that run in families could also be coincidental.
  • Mutations are so rare that it is very unlikely that one will be found.

Anyone who has dealt with the topic a bit will be just as shocked as we are by the amount of false information from the geneticist.
Whether all variants are communicated in this investigation?