Fragile X Syndrome, Molecular Analysis
Method Description Describes how the test is performed and provides a method-specific reference
The (CGG)(n)-repeat number for normal, intermediate, and premutation alleles is determined by analyzing a PCR-amplified product by capillary electrophoresis (Celera). Additionally, confirmation of premutation and full mutation alleles and determination of methylation status are assessed by Southern blot analysis of PCR-amplified product from DNA that is treated with a methylation-sensitive restriction enzyme.(Wilson J, Pratt V, Phansalkar A, et al: Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study. J Mol Diagn 2008;10:2-12; Snow K, Doud L, 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)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday, Wednesday; 10 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Whole Blood: 2 weeks (if available) Extracted DNA: 3 months
Performing Laboratory Location The location of the laboratory that performs the test