Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease

[...]genetic, biochemical, and histological testing (whenever possible) are incorporated into the diagnostic work-up and clinical management of patients with AFD. Biochemical assays, however, have their own limits (11); factors such as pH, temperature, endogenous substances including free hemoglobin, and additional galactosidases (5) can affect the in vitro assay readouts of α-Gal activity. [...]pertinent laboratories must establish and report assay performance metrics and consider various factors that might influence the readouts, including biological sample quality.