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Laboratory: Genomics
Test Name:
FRAGILE X SYNDROME - FMR1 GENE - (B)
Test Code: MD
Clinical Information:
For carrier status prior consultation with the WRHA Genetics & Metabolism Program is required.
Prenatal diagnosis requires prior consultation with Molecular Diagnostic Lab.  
For more information see: 
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fragilex
 
Collection Devices:
Specimen Required:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only.  Testing can also be performed on amniotic fluid (4mL required) or cultured amniocytes.
Referral:
Requisition:
Reference Values:
An interpretive report will be sent.
Availability:
Within 8 Weeks
Expedited turnaround time, where medically indicated, available upon request.
See Also:
More Information:
Do NOT centrifuge.  Specimen is forwarded to Health Sciences Centre - MS5 for analysis.  Store and ship specimens at room temperature.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).