Diagnosis through genetic testing can strongly help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering with suspected genetic metabolic disorders. With knowledge of variants in over 1,250 metabolic disease genes, our rapid testing and extensive experience of metabolic disease genetics can help you diagnose and manage your patients’ metabolic disorder quickly and correctly. Ultimately this can provide new insights into treatment options and predict the likelihood of passing the inherited condition on to offspring or the presence of it elsewhere in the family.
Articles on Metabolic Disorders
Molecular, Biochemical, and Structural Analysis of a Novel Mutation in Patients with Methylmalonyl-CoA Mutase Deficiency
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). We found one homozygous nucleotide change in intron 12 of the MUT gene (c.2125-3 C > G).
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous…
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6- sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6- sulfate in tissues and secondary organ…
Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules.
Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing of the CFTR gene.