Genetic Testing for Metabolic Disorders

Detects genetic variants associated with hereditary hypomagnesemia and renal dysfunction.

Detects genetic variants associated with primary CoQ10 deficiency, mitochondrial disorders and cerebellar ataxia

Detects genetic variants associated with neurometabolic disorders with intellectual disability and seizures

Detects genetic variants associated with inherited lipid disorders and increased cardiovascular disease risk.

Detects genetic variants associated with hypoglycemia, hyperinsulinism and impaired ketone metabolism.

Detects genetic variants associated with lysosomal storage disorders with neurodegeneration and multisystem disease

Detects genetic variants associated with monogenic early-onset diabetes and pancreatic beta-cell dysfunction.

Detects genetic variants associated with inherited metabolic disorders and multisystem clinical manifestations

Detects genetic variants associated with metabolic disorders presenting with epileptic seizures

Detects genetic variants associated with rhabdomyolysis, muscle damage and disorders of energy metabolism

Detects genetic variants associated with mitochondrial disorders and impaired cellular energy production

Detects genetic variants associated with monogenic severe early-onset obesity and appetite dysregulation.

Detects genetic variants associated with inherited nephrolithiasis and nephrocalcinosis

Detects genetic variants associated with episodic muscle weakness and periodic paralysis with potassium imbalance

Detects genetic variants associated with porphyrias with neurovisceral attacks and cutaneous photosensitivity