Fragile X-associated Premature Ovarian Insufficiency (FXPOI)

Test Information
Test Name Fragile X-associated Premature Ovarian Insufficiency (FXPOI)
Lab (Location) North York General Hospital
Category Fertility/Reproductive, Neurodevelopmental
Subcategory Fragile X Syndrome
Gene/Platform/Region List FMR1 (CGG repeats)
Test type Single Gene
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Electrophoresis, PCR
Methodology Notes TP-PCR and fragment analysis
Diseases/Conditions fragile X-associated primary Ovarian Insufficiency (FXPOI)