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INTERPRETING

TEST RESULTS

Interpreting the results of genetic tests

Potential results of genetic testing

Considerations after genetic testing

  • Additional testing may be required
  • Treatment is available
  • Expert help is available to provide coordination of care
Genetic testing can help inform which treatments may be appropriate.4
Learn more about the role of family genetic testing

GLA, galactosidase alpha gene.

References: 1. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. 2. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555-564. 3. Hoffman-Andrews L. The known unknown: the challenges of genetic variants of uncertain significance in clinical practice. J Law Biosci. 2018;4(3):648-657. 4. Bichet DG, Hopkin RJ, Aguiar P, et al. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. Front Med (Lausanne). 2023;10:1220637.