Metabolic Disorders

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Our virtual panels include over 3,000 genes selected based on the most up-to-date literature, gene reviews and variant databases. Our whole genome approach offers cost-effectiveness by reducing the need for multiple targeted tests, and maximises diagnostic yield by allowing you to combine panels, select individual genes, and surface variants across all regions of the genome.

Genetics in Metabolic Disorders

The identification of at-risk family members enables the initiation of preventive measures and the provision of lifestyle recommendations. Simultaneously, it validates the need for regular check-ups under medical supervision. Genetic diagnosis also extends its utility to family planning considerations.

While genetic panel tests are highly valuable in metabolic disorders, it’s essential to interpret their results in the context of a patient’s clinical presentation and other diagnostic tests. We recommend working closely with genetic counselors and other specialists to ensure that genetic information is used effectively to diagnose, treat, and manage metabolic conditions.

For further information on tailoring treatment plans to an individual’s genetic profile, leading to improved outcomes and reduced side effects, please visit our pharmacogenomics page.

Metabolic Disorder Panels

Cerebral folate deficiency   
Congenital disorders of glycosylation  
Ketotic hypoglycaemia   
Mitochondrial disorders    
Mucopolysaccharideosis, Gaucher, Fabry    
Peroxisomal disorders    
Severe familial anorexia    
Undiagnosed metabolic disorders

How to order

For information about our registration process and prices, please don’t hesitate to get in touch. A member of our friendly team will get back to you shortly.