Author(s): Rolfs, Prof. Arndt, MD, Čerkauskaite, A, Čerkauskiene, R, Miglinas, M, Laurinavičius, A, Ding, C, Vencevičiene, L, Barysiene, J, Kazėnaitė, E, Sadauskienė, E
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants.
The interpretation of missense variants in a disease context is challenging, especially for variants that have never been reported before. In metabolic disorders, the potential of biochemical analyses for assisting in variant classification is increasingly recognized. CENTOGENE therefore combined genetic, enzymatic and metabolic testing into a single approach termed CentoMetabolic®.
Read publication
