Due to national public holidays, our Helsinki laboratory and Customer Support have a few exceptions in opening hours during May and June.Read more
Genetic testing for metabolic disorders
Our panels include over 3,000 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Hundreds of inherited metabolic disorders have been identified, including 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 death. Early detection of congenital metabolic disorders is important to prevent the morbidity, mortality, and disabilities associated with the inherited disorder.
What genetic diagnostics can offer patients with metabolic disorders
Genetic diagnostics is the most efficient way to subtype metabolic disorders, and provides the necessary information to make confident individualized treatment and management decisions. For example, in coenzyme q10 deficiency, a correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. As another example, enzyme replacement therapy (ERT) is available for nine specific forms of lysosomal storage diseases, and each ERT augments or replaces the activity of a specific endogenous catabolic enzyme within cellular lysosomes.
Genetic diagnostics of metabolic myopathy and rhabdomyolysis, as well as fatty acid metabolism, are estimated to be cost-effective for public health systems (UK Genetic Testing Network, UKGTN evaluation, 2015). Additionally, genetic diagnosis is considered an effective tool for family-member risk stratification. Identifying at-risk relatives makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Moreover, detecting the causative mutation establishes the mode of inheritance in the family, which is essential for well-informed genetic counseling. Genetic diagnosis can also help in family planning.
Metabolic Disorders panels
How to order
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.
Latest news and resources
Fábio Arrojo is like a detective at times. Just that he doesn’t investigate crimes or questions suspects, but “digs deep down into genes.” Analyzing genetic sequences and their meaning is his job in a nutshell, trying to find an explanation for the patient’s symptoms.Read more
In this educational webinar, we present recent challenging cases and describes the team’s approach to resolving these. Through these cases, we demonstrate the clinical importance of high-resolution CNV analysis, the need for custom solutions to improve the sensitivity of difficult-to-sequence regions, and the value of covering clinically relevant noncoding variants.Read more