GBA c.84dupG

GBA c.84dupG

The GBA c.84dupG Novallele Genotyping Assay identifies a single insertion within the GBA gene, also known as IVS2+1G-A, that eliminates the activity of beta-glucocerebrosidase. Loss of this enzymatic function may result in Type I or Type II Gaucher disease, which is characterized by hepatosplenomegaly, anemia, thrombocytopenia, and bone abnormalities.


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Product Description

The GBA c.84dupG 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.