Katharina Stoeck and colleagues describe a strategic diagnostic workup including genetic testing on patient with adult-onset metachromatic leukodystrophy. They identified a compound heterozygous mutation in the ARSA gene: c.542T>G (exon 3) and the novel mutation c.1013T>C (exon 6).
Stoeck, Katharina et al. Journal of Alzheimer's disease: JAD.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway