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?