SACS c.8844delT

SACS c.8844delT

The SACS c.8844delT Novallele Genotyping Assay identifies a single nucleotide deletion within the sacsin molecular chaperone gene. Two apparent mutations of this gene cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). One mutation deletes a thymine at position 6594 in the SACS gene, whereas the other mutation replaces a cytosine with a thymine at position 5254 in the SACS gene. ARSACS causes unstable sacsin protein production, which is characterized by spasticity, ataxia, amyotrophy, and dysarthria.


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Product Description

The SACS c.8844delT 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.