Fragile X E (FMR2 gene)

Test Information

Title
Fragile X E (FMR2 gene)
Lab
Category
Neurodevelopmental
Test Name (CMS Title)
Fragile X Syndrome
Gene/Platform/Region List
AFF2 (FMR2)
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
PCR
Methodology Notes
PCR-based Repeat Expansion Detection
Disease/Condition
Fragile X E (FRAXE), FRAXE syndrome; Fragile site, folic acid type; X-linked intellectual disability associated with fragile site FRAXE

Last Updated: November 14, 2025

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