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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
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:
Email Cytogenetics:
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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