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Test Code FUFXS Fragile X, Follow-up Analysis

Reporting Name

Fragile X, Follow up Analysis

Specimen Type

Varies


Specimen 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
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

The interpretive report includes an overview of the findings as well as the associated clinical significance.

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;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;21(6):752-60

3. Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(5):799-812

4. Hunter JE, Berry-Kravis E, Hipp H, et al. FMR1 Disorders. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1998. Updated May 16, 2024. Accessed January 6, 2025. Available at www.ncbi.nlm.nih.gov/books/NBK1384/

Day(s) Performed

Varies

Report Available

8 to 10 days