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Sequenom Labs introduces MaterniT GENOME laboratory-developed test
San Diego | Tuesday, July 14, 2015, 09:00 Hrs  [IST]

Sequenom Laboratories, a wholly owned subsidiary of Sequenom, Inc., a life sciences company committed to enabling healthier lives through the development of innovative products and services, announced the upcoming launch of the MaterniT GENOME laboratory-developed test. This test is the first noninvasive prenatal test (NIPT) to provide karyotype-level insight into fetal chromosomal status prior to considering an invasive procedure.

The MaterniT GENOME test adds genome-wide identification of chromosomal gains or losses greater than 7 megabases (Mb) in size to Sequenom Laboratories' growing NIPT testing portfolio.

"While cell-free DNA screening has marked a significant improvement in identifying pregnancies at risk for select whole chromosome aneuploidies, there remain a number of significant cytogenetic abnormalities that noninvasive prenatal testing has not been able to identify," said Ronald Wapner, M.D., Director of Reproductive Genetics at Columbia University Medical Center. "The ability to noninvasively detect subchromosomal alterations 7 megabases or greater throughout the genome should identify the majority of these changes that were previously undetectable by NIPT."

The MaterniT GENOME test builds upon the industry leading microdeletion performance demonstrated by Sequenom Laboratories with the MaterniT21 PLUS laboratory-developed test, which was recently highlighted in an article by Hume JH, et al, published in the peer-reviewed journal Prenatal Diagnosis. Data supporting the validation of the MaterniT GENOME test will be presented at the 19th International Conference on Prenatal Diagnosis and Treatment (sponsored by the International Society of Prenatal Diagnosis and Therapy - ISPD) in Washington D.C., taking place July 12-15, 2015. The MaterniT GENOME test will be available to physicians later this quarter.

"The MaterniT GENOME test fulfills our goal of delivering the most relevant fetal genomic information noninvasively," said William Welch, president and chief executive officer of Sequenom. "As pioneers and innovators in noninvasive prenatal testing, we believe MaterniT GENOME represents a safe, cost effective and meaningful breakthrough in NIPT, supporting physicians in providing superior prenatal care for their patients."

Sequenom Laboratories offers the most comprehensive portfolio of noninvasive prenatal testing services, including the VisibiliT and MaterniT21 PLUS tests, in addition to the new MaterniT GENOME test.

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