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Ataxia Telangiectasia /Nijmegen Breakage Syndrome
Alternate test name
Chromosome Breakage Tests
Lab area
Genome Diagnostics - Cytogenetics
Method and equipment
3 day PHA-stimulated culture; G-banding
Expected turn-around time
Routine: 4 weeks
Newborns or expedite cases: 5-9 working days
Specimen type
Peripheral blood
Specimen requirements
Blood at room temperature in sodium heparin
Volume: 0-3 months 1-3 mL
3 months-12 years: 3-6 mL
12 years - adult: 6 mL
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
Background and clinical significance
An increase in frequency of chromosomes 7 and 14 rearrangements (involving T cell receptor loci) is seen in the cells of Ataxia Telangiectasia and Nijmegen syndrome patients.
Disease condition
Ataxia Telangiectasia Nijmegen Breakage syndrome
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Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200