Comprehensive Metabolic Disorders Panel
Hundreds of inherited metabolic disorders have been identified in recent years. Specifically, these include disorders of lysosomal storage, fatty acid oxidation, creatine metabolism, glycosylation, glycogen and urea storage, disorders of peroxysomic, organic acids, hypoglycemia, hypersensitivity and hyperinsulinemia, hyperinsulinemia. These disorders vary in severity and age of onset and can cause serious health problems or death. Early detection of congenital metabolic disorders is important to prevent morbidity, mortality and disabilities associated with hereditary disorders.
In collaboration with your doctor select the Comprehensive Metabolic Disorders Panel, which includes 538 genes (Figure 3) for 29 genetically inherited metabolic disorders (Figure 2h).
It is necessary to present a Medical Referral
In the Comprehensive Metabolic Disorders Panel complete clinical report, genetic counseling analysis based on ACMG protocols, reanalysis every 6-8 months.
Response Time 4-6 weeks.