ASPA c.433-2A>G

ASPA c.433-2A>G

The ASPA c.433-2A>G Novallele Genotyping Assay identifies a single nucleotide change of the ASPA gene. Mutations of the ASPA gene impair aspartoacylase activity and prevent the breakdown of N-acetyl-L-aspartic acid (NAA). High amounts of NAA in the brain cause Canavan disease. Canavan disease is characterized by hypotonia and macrocephaly as well as feeding and swallowing difficulties, seizures, and sleep disturbances.


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Product Description

The ASPA c.433-2A>G 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.