Genetic Test Details | Ontario Health

Fragile X (FMR1 gene)

Test Information

Title: Fragile X (FMR1 gene)
Lab: The Hospital for Sick Children
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
Methodology Notes: PCR-based Repeat Expansion Detection
Disease/Condition: FRAXA syndrome, Fragile X Tremor Ataxia syndrome, FXTAS, FMR1-related primary ovarian insufficiency

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