Metabolic Disorders

Genetic testing for metabolic disorders

Our panels include over 3,900 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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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

Webinars

In Focus: Complex Genetic Regions in Clinical Diagnostics

Jan 14, 2021

In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.

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Videos

Video: The Rapidly Evolving Field of Retinal Genetics

Jan 13, 2021

We spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays.

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