Quest Diagnostics Investments, Inc.

Somalogic, Incorporated

Quest Diagnositcs Investments Incorporated

Weimin Sun

Matthew J McGinniss

Arlene M Buller

Franklin Quan

Mei Peng

Donghui Huang

Raymond Fenwick

Charles M Strom

David C Tsao

Feras Hantash

Dana Marie Root

Chris Bock

Malti P Nikrad

Bharat Nathu Gawande

Yan Liu

Deborah Ayers

Noh Jin Park

Jennifer C Bertino

Ben Anderson

Provided herein are methods and systems for cell-free DNA extraction from liquid biological samples. The methods can be employed for determination of fetal DNA fraction and non-invasive prenatal screening of fetal aneuploidies and analyses of other types of cell-free DNA.

Methods for cell-free DNA extraction for non-invasive prenatal screening

Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5'-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.

Method to detect repeat sequence motifs in nucleic acid

The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.

Cystic fibrosis transmembrane conductance regulator gene mutations

Cystic fibrosis gene mutations

The present invention provides aptamers that specifically bind to the EGF receptor in a sample, and diagnostic and analytical methods using those aptamers. In some embodiments, the aptamers include a 3' cap. In some embodiments, the 3&#x2032; cap is an inverted deoxythymidine. In some embodiments the aptamers include a spacer and at least one moiety selected from the group consisting of binding pair member and a detectable label, wherein the spacer is attached to the 5&#x2032;-end of the aptamer and the moiety is attached the 5&#x2032; end of the spacer. In some embodiments the spacer is hexaethylene glycol. In some embodiments, the binding pair member biotin. In some embodiments the detectable label is a fluorophore.

Aptamers and diagnostic methods for detecting the EGF receptor

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Irvine, CA, United States of America

Weimin Sun