In this educational webinar, Dr Xiangling Wang, MD, PhD, will discuss the important role of genetics in the diagnosis of kidney disease. The webinar aims to improve clinicians’ and researchers’ understanding of genetic kidney disorders to help their daily practice.Read more
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.
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
New Ora-Collect OCR-100/OCD-100 buccal swabs will be available for healthcare providers to order through our website or online portal, Nucleus. This new specimen collection kit addresses the need for more accessible sample collection, especially for pediatric patients or when collecting sufficient sample volume with a traditional saliva kit is otherwise challenging.Read more
Las variantes de significado incierto (VUS) a menudo se consideran resultados no deseados en las pruebas genéticas. ¿Qué pasos podemos seguir para entender mejor este tipo de variantes? En este seminario web, la Dra. Raquel Pérez Carro, genetista en Blueprint Genetics, presentará en detalle cómo interpretar y clasificar las variantes de significado incierto y los próximos pasos a considerar para obtener una posible reclasificación.Read more