GENETIC TESTING OF TELOMERE-ASSOCIATED GENES IN DYSKERATOSIS CONGENITA AND RELATED DISORDERS

摘要

The present invention features methods of detection, diagnosing a presence or a predisposition to, or determining the risk for a subject to develop telomere-associated diseases or disorders. The methods include detecting the presence or absence of an alteration in a nucleic acid in a sample. The methods also include determining telomere length. In certain cases, average telomere length is a surrogate marker for a telomere-associated disease or disorder.