Quest Diagnostics Investments, Inc.

Quest Diagnositcs Investments Incorporated

David C Tsao

Weimin Sun

Charles M Strom

Feras Hantash

Oguzhan Atay

Dana Marie Root

Yan Liu

Patrick Ye

Ben Anderson

Sukrit Silas

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

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Hacienda Heights, CA, United States of America

David C Tsao