Genetic Testing for Metabolic Disorders

Detects genetic variants associated with hereditary hypomagnesemia and renal dysfunction.

Detects genetic variants associated with early-onset neuroinflammatory disorder and neurological impairment

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

Detects genetic variants associated with lipodystrophy with abnormal fat distribution and metabolic complications

Detects genetic variants associated with glycosylation disorders with multisystem dysfunction

Detects genetic variants associated with carbohydrate metabolism and absorption disorders

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

Detects genetic variants associated with cystinuria and recurrent kidney stone formation

Detects genetic variants associated with fatty acid oxidation disorders and impaired energy production

Detects genetic variants associated with glycogen storage disorders with hypoglycemia and muscle or liver dysfunction

Detects genetic variants associated with iron overload and progressive organ damage

Detects genetic variants associated with homocystinuria and increased risk of thromboembolic events

Detects genetic variants associated with hyperammonemia and impaired nitrogen detoxification disorders

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

Detects genetic variants associated with hyperphenylalaninemia and neurological impairment

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 metabolic liver failure and progressive hepatic dysfunction

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 glycine encephalopathy and severe neurological dysfunction

Detects genetic variants associated with organic acidemias and metabolic decompensation with neurological symptoms

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

Detects genetic variants associated with peroxisomal disorders and multisystem involvement

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

Detects genetic variants associated with metabolic disorders with neurologic or metabolic features

Detects genetic variants associated with tyrosine disorders with hepatic, renal or neurologic manifestations