Metabolic Disorders

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.

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Latest news and resources

Webinars

Beyond the Nucleus: Combining Panel-based NGS Testing with mtDNA Analysis

Jan 07, 2022

Although mtDNA disorders are relatively common, testing for these disorders can be challenging. In this webinar, we will review the role of the mitochondrial variants in inherited disease, describe current capabilities in NGS testing for evaluating mtDNA variants, and present our experience including mtDNA analysis as part of clinical genetic testing and demonstrate how this approach increases diagnostic yield of NGS-based panel testing.

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Webinars

APOE in Focus: Considerations and Guidelines for Genetic Testing

Nov 24, 2021

Variants in APOE are known to play a role in both abnormalities of lipid metabolism and neurologic disease. During this webinar, we will review APOE’s role in coronary artery disease risk and Alzheimer’s disease risk, and address questions and review current guidelines for testing APOE.

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Our service hours during the holiday season

Nov 22, 2021

During November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help!   The Helsinki laboratory and Customer Support opening hours during…

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