Info about GLA gene testing in Fabry disease in Germany

IMPORTANT for all who have been genetically tested for Fabry disease in the last years!
The laboratory findings may be incomplete and it could be that a variant is present but not reported.

Only pathogenic/disease causing variants are still reported in the findings!

The arbitrary classification of variants as benign/ benign by the laboratories means that they are no longer reported. The report only states:

No clinically relevant variant was detected or
No pathogenic variant found

It is not possible to determine an exact date for this procedure, as some laboratories were already practicing this before the GEKO decision. Here, the tests offered free of charge by the pharmaceutical industry stood out in a particularly negative way.

The German Genetic Diagnostics Commission has decided that laboratories should only report disease-causing and probably disease-causing variants in their findings. Variants of unclear significance may be mentioned in the findings. Benign and probably benign variants should no longer be reported.

There are five classifications regarding the pathogenicity of mutations/variants:

  • pathogenic- pathogenic (causing disease)
  • likely pathogenic- probably pathogenic (causing disease)
  • uncertain significance
  • likely benign – probably benign
  • benign- benign

More info at: