Blueprint Genetics is sponsoring and attending the annual Baltic Metabolic Group Meeting in Riga, Latvia, on March 28-29, 2019. This meeting will provide an opportunity to network with colleagues and learn about various metabolic disease topics.
Thursday, March 28, at 16:30
“Gene panels and whole-exome sequencing in identifying the cause of inborn errors of metabolism” Presented by Tiia Kangas-Kontio, Geneticist, PhD, Blueprint Genetics
Genetic testing for metabolic disorders
Comprehensive genetic diagnostics for hereditary metabolic disorders, also known as “inborn errors of metabolism” is becoming increasingly important. Hundreds of inherited metabolic disorders have been identified. These include disorders of lysosomal storage, fatty acid oxidation, creatine metabolism, glycosylation, glycogen storage and urea cycle, peroxisomal disorders, organic acidemias, hypoglycemia, hyperinsulinism and ketone metabolism deficiency, lipodystrophy, hyperphenylalaninemia, and mitochondrial DNA depletion.
These medical conditions vary in severity and age of onset, and they can cause lifelong health problems or even death. Read more about genetic testing for metabolic disorders.
Meet Sales Director Regimantas Metiunas to discuss the latest updates in genetic testing for metabolic disorders or book a meeting in advance.