A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease

The Anderson-Fabry disease (AFD) is an X-linked glycosphingolipidosis leading to a progressive systemic disease. A particular variant of the disease of AFD presents only with left ventricular hypertrophy (LVH). Molecular diagnosis with bidirectional sequencing fails to detect genomic re-arrangements in female patients because of the presence of the wt allele. We here propose a quantitative PCR-based method alternative/complementary to the MLPA.