Fragile X (FMR1 gene)

Test Information

Title
Fragile X (FMR1 gene)
Lab
Category
Neurodevelopmental
Test Name (CMS Title)
Fragile X Syndrome
Gene/Platform/Region List
FMR1
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
PCR + - Southern Blot
Methodology Notes
CGG Repeat
Disease/Condition
Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency

Last Updated: November 14, 2025

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