Innate metabolism errors (IME), also known as hereditary metabolic disorders are a large and heterogeneous group of  genetic illnesses caused by alterations in the DNA that interfere with the normal metabolism. The majority of patients affected have a genetic variant that results in an enzymatic deficiency, which leads to a toxic accumulation of compunds or a reduction in the capacity of the synthesis of essential molecules. Clinical consequences of IME can be serious or fatal, being a common cause of mortality and morbidity, especially in peadiatrics.

Early diagnosis and classification of hereditary metabolic disorders are essential for the treatment and management of patients. Unfortunately it’s heterogeneous nature, high number of existing subtypes and overlapping phenotypes can cause a differential diagnosis.  

Over the last 25 years our team has worked to develop a wide portfolio of biochemical and genetic tests, in order to diagnose, detect and monitor metabolopathies. We are specialised in the screening, diagnosis and monitoring of IME. We also carry out additional testing to confirm positive case results in neonatal screening.  

Our NGS panels for metabolopathies include genes clinically associated with different metabolic illnesses: