Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Ataxia Telangiectasia Testing

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.

Test Name

Ataxia Telangiectasia Testing

Division

Cytogenetics

Method

3 day PHA-stimulated culture; G-banding

External Proficiency Testing

Internal proficiency testing

Turn Around Time

4 weeks

Disease/Condition

Ataxia Telangiectasia Nijmegen Breakage syndrome

Specimen Type

Peripheral blood

Minimum 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/Transportation

Maintain at room temperature. Do not refrigerate or freeze.

Special Requirements

Collect in sodium heparin tube

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Provided