Ataxia Telangiectasia /Nijmegen Breakage Syndrome
Chromosome Breakage Tests
Peripheral blood
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
Maintain at room temperature. Do not refrigerate or freeze.
Collect in sodium heparin tube
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.
Ataxia Telangiectasia Nijmegen Breakage syndrome
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