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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 | ||
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
Interpretation
An interpretive report will be provided.
Clinical Reference
1. Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA: Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 2007 Jan;6(1):45-55
2. Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A: Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the National Society of Genetic Counselors. J Genet Couns. 2012 Dec;21(6):752-60
3. Monaghan KG, Lyon E, Spector EB: ACMG standards and guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013 Jul;15(7):575-586
4. Biancalana V, Glaeser D, McQuaid S, Steinback P: EMQN best practice guidelines for the molecular genetic testing and report of fragile X syndrome and other fragile X-associated disorders. Eur J Hum Genet. 2015 Apr;23(4):417-425. doi: 10.1038/ejhg.2014.185
Day(s) Performed
Monday, Wednesday