Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, HADHB

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, HADHB

Definition : Molecular assay reagents intended to identify mutations in the hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit (HADHB) gene, located at chromosome 2p23, which produces beta subunit of mitochondrial trifunctional protein. Mutations at this locus have been identified in patients with long-chain hydroxyacyl-CoA dehydrogenase deficiency (trifunctional protein deficiency, type 2); they are also present in patients with acute fatty liver of pregnancy and with a disease characterized by simultaneous hemolysis, elevated liver enzyme levels, and a low number of platelets (HELLP syndrome).

Entry Terms : "HELLP Syndrome Gene Mutation Detection Reagents" , "Hemolysis/Elevated Liver Enzyme Level/Low Number of Platelets (HELLP) Syndrome Gene Mutation Detection Reagents" , "Trifunctional Protein Deficiency Type 2 Gene Mutation Detection Reagents" , "Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Mutation Detection Reagents" , "HADHB Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, HADHB"

UMDC code : 24456

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