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Test Code FUFXS Fragile X, Follow-up Analysis

Reporting Name

Fragile X, Follow up Analysis

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

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


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 Type

Varies

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

Only orderable as a reflex. For more information see FXS / Fragile X Syndrome, Molecular Analysis, Varies.

Interpretation

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

Day(s) Performed

Varies

Report Available

8 to 10 days

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.

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