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HelpOrder Code FUFXS Fragile X, Follow-up Analysis
Reporting Name
Fragile X, Follow up AnalysisSpecimen Type
VariesSpecimen Required
Only orderable as a reflex. For more information see FXS / Fragile X Syndrome, Molecular Analysis, Varies.
No additional specimen is required. Lab will utilize specimen they already have in the lab for this test.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Method Description
Methylation for premutation and full mutation alleles is determined by capillary electrophoresis analysis of a polymerase chain reaction-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 Dec;53(6):1217-1228)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81244
Method Name
Only orderable as a reflex. For more information see FXS / Fragile X Syndrome, Molecular Analysis, Varies.
Methylation Sensitive Polymerase Chain Reaction (PCR) Fragment Analysis
Reference Values
Only orderable as a reflex. For more information see FXS / Fragile X Syndrome, Molecular Analysis, Varies.
Useful For
Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders
Day(s) Performed
Monday, Wednesday