San Diego, CA, United States
San Diego, CA, United States

Sequenom is an American company based in California, that develops enabling molecular technologies, and highly sensitive laboratory genetic tests for use in clinical practice.. Sequenom's wholly owned subsidiarity, Sequenom Center for Molecular Medicine , offers multiple clinical molecular genetics tests to patients, including MaterniT21 PLUS, a noninvasive prenatal test for trisomy 21, trisomy 18, and trisomy 13, RetnaGene AMD a genetic test for risk of progression for age-related macular degeneration, Heredi-T Cystic Fibrosis Screening Test, and the SensiGene Fetal RHD Genotyping Test.In June 2014 the company sold its biosciences unit to Agena Bioscience for up to $35.8 million. Wikipedia.


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Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.


Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations. In particular the invention relates to methods and kits for detecting aneuploidy of a fetal chromosome by determining the amounts of differentially methylated regions in each of chromosomes 13, 18 and 21 in circulating cell-free nucleic acid from a human pregnant female.


Provided herein are methods, compositions and kits to extract and relatively enrich by physical separation or amplification short base pair nucleic acid in the presence of a high background of genomic material (e.g., host or maternal nucleic acids).


Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information.


Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.


Patent
Sequenom | Date: 2016-11-02

Provided are methods for identifying the presence or absence of a chromosome abnormality by which a cell-free sample nucleic acid from a subject is analyzed. In certain embodiments, provided are methods for identifying the presence or absence of a fetal chromosome abnormality in a nucleic acid from cell-free maternal blood.


Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.


Provided is a method for determining the amount of fetal nucleic acid in a sample comprising: a) contacting nucleic acid present in a sample from a pregnant female, which sample comprises differentially methylated fetal nucleic acid and maternal nucleic acid, with an agent that specifically binds methylated nucleotides; thereby producing bound nucleic acid; b) isolating the bound nucleic acid of (a), thereby enriching the fetal nucleic acid; and c) determining the amount of fetal nucleic acid by analyzing the amount of fetal nucleic acid of (b) at a plurality of loci selected from loci of SEQ ID NOs:1-89.


Improved solid supports and methods for analyzing target nucleotide sequences are provided herein. Certain improvements are directed to efficiently preparing nucleic acids that comprise nucleotide sequences identical to or substantially identical to one or more target nucleotide sequences, or complement thereof. The prepared nucleic acids include a reference sequence that facilitates sequence analysis. The solid supports and methods provided herein minimize the number of steps required by published sequence analysis methodologies, and thereby offer improved sequence analysis efficiency.


Patent
Sequenom | Date: 2016-01-15

The present invention relates to an in vitro method for detecting methylated DNA comprising (a) coating a container with a polypeptide capable of binding methylated DNA; (b) contacting said polypeptide with a sample comprising methylated and/or unmethylated DNA; and (c) detecting the binding of said polypeptide to methylated DNA. In a preferred embodiment, said method further comprises step (d) analyzing the detected methylated DNA by sequencing. Another aspect of the present invention is a kit for detecting methylated DNA according to the methods of the invention comprising (a) a polypeptide capable of binding methylated DNA; (b) a container which can be coated with said polypeptide; (c) means for coating said container; and (d) means for detecting methylated DNA.

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