HADHA c.1132C>T

HADHA c.1132C>T

The HADHA c.1132C>T Novallele Genotyping Assay identifies a single nucleotide change of the HADHA. Mutations of the HADHA gene eliminate the activity of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). Loss of this enzymatic function may result in LCHAD deficiency and mitochondrial trifunctional protein deficiency, which is characterized by hypoglycemia, hypotonia, and serious heart problems. In some cases, a mutation of the HADHA gene in women may also cause liver disorders during pregnancy, such as acute fatty liver of pregnancy (AFLP) and HELLP syndrome.


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Product Description

The HADHA c.1132C>T 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 necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.