Ataxia Telangiectasia Chromosomal Analysis

Ataxia Telangiectasia Chromosomal Analysis is used to detect the presence of mutated Ataxia Telangiectasia mutated gene (ATM gene). Ataxia Telangiectasia is a rare inherited disorder that affects the nervous system, the immune system, and other systems of the body.

The ATM gene is responsible for maintaining the rate at which the cells grow and divide. An individual protein is responsible for sending signals to the double-stranded DNA which helps in the phosphorylation of histone while a mutated protein is responsible for damaged DNA response and genomic instability. Chromosome 11 (11q22.3) is affected in Ataxia Telangiectasia.