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).


Patent
Sequenom | Date: 2017-06-21

Described herein are products and processes for nucleic acid quantification, which are in part useful for detecting and determining the nucleotide sequence of rare nucleic acids (i.e., low copy number nucleic acids) in a sample. Such products and processes are useful for reducing the dynamic range among different nucleic acid species.


Methods for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information, in particular length of fragments in circulating cell-free nucleic acids and compares the number of counts from fragments with different length.


Patent
Sequenom | Date: 2017-04-05

Technology described herein pertains in part to diagnostic tests that make use of sequence reads generated by a sequencing process. In some embodiments, a component used to generate a chromosome representation can be based on counts of sequence reads not aligned to a reference genome.


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.


Patent
Sequenom | Date: 2017-01-18

Provided herein are methods and compositions to extract and enrich by, physical separation or amplification, relatively short nucleic acids from a nucleic acid composition containing a high background of longer nucleic acids (e.g., host or maternal nucleic acids; genomic nucleic acid and the like).


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 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.

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