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Bloom Syndrome
Alternate test name
Chromosome Breakage Tests
Lab area
Genome Diagnostics - Cytogenetics
Method and equipment
3 day culture with addition of Bromodeoxyuridine; Specialized staining for SCE
Expected turn-around time
4 weeks
Specimen type
Peripheral Blood
Specimen requirements
3-6mL (3 mL minimum for neonates)
Storage and transportation
Maintain at room temperature. Do not refrigerate or freeze.
Special requirements
Collect in sodium heparin tube
Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
Canada
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab: molecular.lab@sickkids.ca
Email Cytogenetics: cytogenetics.requests@sickkids.ca
Requisition
Background and clinical significance
An increase in sister chromatid exchange frequency is observed in Bloom syndrome patients.
Disease condition
Bloom Syndrome
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Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200