Fragile X (FMR1 gene)
Test Information
- Titre
-
Fragile X (FMR1 gene)
- Catégorie
- Neurodevelopmental
- Test Name (CMS Title)
-
Fragile X Syndrome
- Gene/Platform/Region List
-
FMR1
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA
- Indications
- Diagnostics, 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
Dernière Mise à Jour: 09 décembre 2025