Quest Diagnostics Investments, Inc.

Christopher McCaskill

Mansoor S Mohammed

Natasa Dzidic

Jaeweon Kim

The present invention provides methods of detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. In particular, the present invention provides advanced methods of performing array-based comparative hybridization that allow reproducibility between samples and enhanced sensitivity by using the same detectable label for both test sample and reference sample nucleic acids. Invention methods are useful for the detection or diagnosis of particular disease conditions such as cancer, and detecting predisposition to cancer based on detection of chromosomal or genetic abnormalities and gene expression level. Invention methods are also useful for the detection or diagnosis of hereditary genetic disorders or predisposition thereto, especially in prenatal samples. Moreover, invention methods are also useful for the detection or diagnosis of de novo genetic aberrations associated with post-natal developmental abnormalities.

Single label comparative hybridization

Disclosed is a method for performing nucleic acid hybridization assays which involve the application of acoustic surface waves. The hybridization assays may be used for detecting and mapping chromosomal or genetic abnormalities associated with various diseases or associated with predisposition to various diseases. In a particular aspect, the present method relates to the use of rapid nucleic acid hybridization methods, such as comparative genomic hybridization (CGH), for comparing nucleic acid segments of one genome to corresponding nucleic acid segments in another genome(s).

Growing community of inventors

Ladera Ranch, CA, United States of America

Christopher McCaskill