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HelpTest 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
LOINC Code Information
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 52421 | Comment | 48767-8 |
| 52422 | Specimen | 31208-2 |
| 52423 | Source | 31208-2 |
| 52424 | Released By | 18771-6 |
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.
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.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