The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders with high phenotypic and genotypic heterogeneity, making precise diagnosis challenging. Although enzyme activity assay is considered the gold standard for the diagnosis of these disorders, molecular testing can greatly refine this task. New methods for rapid detection of variants are useful to reduce the 'diagnostic odyssey' faced by patients and their family, to lead to appropriate genetic counseling and to select the most appropriate therapy for each case. Areas covered: We review and discuss the advantages, disadvantages and limitations of the modern technologies in the field of molecular diagnosis of MPS, presenting our own experience. Expert commentary: While current molecular genetics testing for MPS mostly relies on PCR and Sanger sequencing, promising alternative techniques have emerged over the last few years, and its application into routine clinical practice is gaining momentum.
Keywords: Molecular genetic testing; lysosomal storage disorders; mucopolysaccharidoses; mutation identification; next generation sequencing.