Asper Metabolic Disorders
Citrullinemia, type 1
Fatty Acid Oxidation Disorder
Glutaric Aciduria, type 1
Glutaric Aciduria, type 2
Glycogen Storage Disease
Lysosomal Storage Disease
Metabolic Myopathy and Rhabdomyolysis
Methylmalonic Aciduria and Homocystinuria
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Smith Lemli Opitz Syndrome
Urea Cycle Disorder
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Whole Exome Sequencing
EMQN Certificate of Participation
Asper Metabolic Disorders selection consists of tests for molecular diagnostics of metabolic disorders. Metabolic disorders are highly diverse group of conditions with variable severity of symptoms, commonly neurological impairment, organomegaly, and mental retardation are involved. The mode of inheritance is usually autosomal recessive but can also be X-linked.
The testing portfolio includes single gene tests as well as multigene panels. Glycogen and lysosomal storage diseases, fatty acid oxidation disorders, and urea cycle disorders are represented among others.
Confirmatory genetic testing allows effective treatment, genetic counseling, and risk assessment for family members.