Fragile X E (FMR2 gene)

Test Information
Test Name Fragile X E (FMR2 gene)
Lab (Location) The Hospital for Sick Children
Category Neurodevelopmental
Subcategory Fragile X Syndrome
Gene/Platform/Region List AFF2 (FMR2)
Test type Single Gene
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology PCR
Methodology Notes PCR-based Repeat Expansion Detection
Diseases/Conditions Fragile X E (FRAXE), FRAXE syndrome; Fragile site, folic acid type; X-linked intellectual disability associated with fragile site FRAXE