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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Latest news and resources

Webinars

Open Access Genetic Testing Program for Patients with Inherited Retinal Disease – Workshop for Eye Care Professionals

May 22, 2020

The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers an open access, no-cost genetic testing program called the My Retina Tracker Program®. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). In this webinar-workshop, we will review the program features and the online ordering process.

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Webinars

El reto de resolver casos pediátricos complejos

May 18, 2020

El equipo de Blueprint Genetics no está ajeno al reto de resolver casos complejos. Durante este seminario web, la Dra. Rocío Sánchez Alcudia, genetista en Blueprint Genetics, describirá, a través de ejemplos de casos pediátricos, algunos de los desafíos más recientes a los que se ha enfrentado nuestro equipo para llegar a un diagnóstico molecular.

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Webinars

How to Solve Challenging Pediatric Cases, Part III

May 15, 2020

The Blueprint Genetics team is no stranger to challenging cases. In this webinar, Senior Geneticist, Dr Kirsty Wells and Clinical Liaison Julie Hathaway, will describe, through pediatric case examples, some of the team’s most recent efforts at arriving at a molecular diagnosis. They demonstrate how teamwork, combined with innovative technology, bioinformatics and skilled interpretation, can solve even the most difficult of cases.

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