Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
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A polymerase chain reaction (PCR)-based assay is used to detect expansions of a CGG trinucleotide tract in the 5'UTR of the FMR1 gene. Methylation status for large premutations (170+) and full mutation alleles is determined by capillary electrophoresis analysis of a PCR-amplified product from DNA that is treated with a methylation-sensitive restriction enzyme.(Grasso M, Boon EM, Filipovic-Sadic S, et al: A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis. J Mol Diagn. 2014 Jan;16(1):23-31; Snow K, Doud LK, Hagerman R, et al: Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet. 1993;53:1217-1228)
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