Metabolic Screening by Tandem Mass SpectrometryFor early detection of more than 30 clinically important metabolic disorders in the following categories :
Primary TargetsThose conditions the programme is aiming to detect
Organic Acid Disorders:● Propionic acidaemia● Methylmalonic acidaemia (MUT)● Cobalamin A/B● Isovaleric acidaemia● ß-ketothiolase deficiency● Glutaric acidaemia type 1● Malonic aciduria● 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency● Multiple carboxylase deficiency
Fatty Acid Oxidation Disorders:● Primary carnitine deficiency / Carnitine uptake deficiency● Medium chain acyl-CoA dehydrogenase deficiency● Very long chain acyl-CoA dehydrogenase deficiency● Long chain hydroxy acyl-CoA dehydrogenase● Trifunctional protein deficiency
Amino Acids Disorders:● Phenylketonuria including biopterin defects● Maple Syrup Urine Disease● Citrullinaemia type 1● Argininosuccinic Aciduria● Tyrosinaemia type 1● Homocystinuria (pyridoxine unresponsive)
Secondary ConditionsConditions that may well be identified while investigating abnormal results for the primarytargets.
Amino Acid Disorders:● Hyperphenylalanine● Argininase deficiency● Citrin deficiency● Hypermethioninaemia● Tyrosinaemia Types 2 and 3
Subscribe to our mailing list to get the updates to your email inbox...