IKBKAP c.2204+6T>C

IKBKAP c.2204+6T>C

The IKBKAP c.2204+6T>C Novallele Genotyping Assay identifies a single nucleotide change of the IKBKAP gene. Mutations of the IKBKAP gene causes improper metabolism of the IKK complex-associated protein (IKAP) resulting in familial dysautonomia. Familial dysautonomia is characterized by hypotonia, frequent lung infections, and fluctuating body temperature. Significantly reduced amounts of IKAP protein in the brain cells is one of the most important driver of familial dysautonomia.


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Product Description

The IKBKAP c.2204+6T>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 necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.