Neurochemistry Dr. Keith Hyland, PhD, runs the Neurochemistry/Metabolic department at MNG Laboratories and is a globally recognized expert in the field of inherited metabolic disease and test method development. Dr. Hyland is well known for his expertise
Next-generation sequencing has evolved into a powerful diagnostic tool helping thousands get answers to the most challenging diagnostic dilemmas. RNA Sequencing can help re-classify a VUS, both in coding and non-coding regions, as a likely disease-causing variant.
Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified, thus it has a higher chance to find the cause of a heritable disease.
Whole genome sequencing is a novel diagnostic tool used to identify deep intronic regions with known pathogenic variants by sequencing the entire human genome. Approximately 10% of known pathogenic disease causing variants are outside the exon boundaries, which are undetected using whole exome.