Metabolic disorders

Genetic testing is clinically relevant for the following indications, including but not limited to:

• Patients with clinical or biochemical features suggestive of an inherited metabolic disorder
• Neonates with an abnormal newborn screen requiring confirmatory molecular testing
• Patients with an unexplained or genetically heterogeneous metabolic phenotype
• Patients meeting certain clinical criteria, e.g., for see the Dutch Lipid Clinic Network or Simon Broome criteria

Testing is typically requested by metabolic geneticists, paediatricians, neonatologists, hepatologists and lipid specialists.

Genetic testing is used when a metabolic disorder is suspected clinically or biochemically, to establish a definitive molecular diagnosis and possibly confirm or define the clinical subtype. Besides this, there are therapeutic approaches for certain diseases in the field of genetically caused metabolic disorders. In for example, genetic testing increases the likelihood of a definitive diagnosis among patients referred to lipid clinics. A confirmed result supports clinical decision-making.

• A pathogenic or likely pathogenic variant establishes the specific molecular diagnosis, identifying the causative gene and condition.
• A variant of uncertain significance (VUS) cannot currently be classified as benign or pathogenic; reanalysis can be offered after a few years as evidence accumulates.
• In other cases, no pathogenic variant is detected in the analysed genes. The presence of a pathogenic variant cannot, however, be entirely excluded: the causative change may lie in a gene not yet linked to the condition, or in a regulatory region that current methods cannot reliably capture.
• Each variant is classified according to ACMG/AMP criteria or special guidelines, e.g., from .

Evartia is a genetic test which screens for genetic mutations in people suspected of having an Inherited Metabolic Disease (IMD). IMDs exhibit a wide variety of characteristics, both in the age of symptoms onset and in the clinical presentation and severity of symptoms. Through genetic testing, Evartia can identify the disease-causing variant accurately, quickly, and reliably, signaling the start of beneficial clinical management that can prevent or reduce acute, life-threatening symptoms and chronic complications, benefiting your patient’s quality of life.

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