Cytogenetics Laboratory
Fragile X Protocol
   A Joint Venture of London Health Sciences Centre and St. Joseph's Health Care London

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Specimen Collection Guide – Fragile-X

4mL peripheral blood in an EDTA vacutainer should be collected and sent directly to the DNA Diagnostic Laboratory in Kingston. Specimens can also be sent to Molecular Diagnostics at LHSC for referral to Kingston.

Direct molecular testing for detection of Fragile-X Syndrome is available at Kingston General Hospital which has been funded by the Ministry of Health to provide this service for the Province of Ontario. Any questions or concerns should be directed through the DNA Diagnostic Lab at Kingston General Hospital.

Fragile-X Testing
DNA Diagnostic Laboratory
Department of Pathology
Rm 414, Douglas Wing
Kingston General Hospital
76 Stuart St.
Kingston, Ontario
K7L 2V7
Tel: (613) 548-3232 ext. 4134
Toll Free: (800) 567-5722 ext. 4134
Fax: (613) 544-9948


Store and transport specimen at room temperature (15º-25ºC). Send specimen within 24 hours of collection. Avoid collecting and/or shipping specimens on Thursdays and Fridays.
Note: All specimens should contain at least two patient identifiers and a completed requisition.

*Blood samples collected for both Fragile-X and routine chromosome studies should be sent separately to Kingston and LHSC Cytogenetics laboratory respectively.

Please refer to the Blood Specimen Collection Guide for the proper collection of blood for routine chromsome studies.

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  Revised: June 3, 2011
Maintained by: Janice Little