- Test Name
- FRAGILE X A/FMR1
- Aliases
- Fragile X, FMR1, FRAXA
- Provincial Mnemonic
- LOINC Test Code
- Description and Primary Use
- Diagnosis of Fragile X, premature ovarian insufficiency (POI), FMR1-associated tremor and ataxia syndrome (FXTAS)
- Reorder interval
- Once only
- TAT
- 4-6 weeks
- Test Cost
- Not Available
- Tier
- 3 - Special Authorization Required (See Required Consultation)
- Ordering Requirements (Restrictions / Conditions)
Restricted to Medical Geneticists associated with the Provincial Medical Genetics Program, subset of EH pediatricians and pediatric neurologists and OB/GYN fertilty physicians within EH
- Required Consultations
- Genetic counselling
- Algorithms and Guidelines
Not Applicable
- Special Patient Preparation
None
- Special Collection / Transport / Processing Requirements
EDTA, 4-8 mL peripheral blood, refrigerated NOT frozen
- Criteria for Rejection
- Laboratory Service Area
- Performing Laboratory / Site
- Category 4 (HSC only)
- Last Updated
- 24-May-19