HADHA c.1528G>C

HADHA c.1528G>C

The HADHA c.1528G>C Novallele Genotyping Assay identifies a single mutation in the HADHA gene that eliminates long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme activity. Loss of function of this enzyme may result in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and mitochondrial trifunctional protein deficiency, characterized by hypoglycemia, hypotonia, and serious heart problems. In some cases, HADHA mutation in women may also cause liver disorders during pregnancy, known as acute fatty liver of pregnancy (AFLP) and HELLP syndrome.


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Product Description

The HADHA c.1528G>C Novallele Genotyping Assay is used to amplify and identify specific genetic polymorphisms or mutations. This assay provides scientists with a simple way to quickly genotype this locus from isolated human genomic DNA. The assay contains functionally-verified oligonucleotide primers and unlabeled probes necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.