The New York State Department of Health has recently issued approval for statewide marketing of the CombiSNP test by CombiMatrix Corp, Irvine, Calif, a molecular diagnostics company specializing in preimplantation genetic screening services and DNA-based testing services for prenatal and postnatal developmental disorders.


Mark McDonough, CombiMatrix Corp.

The CombiSNP test uses chromosomal microarray analysis (CMA) to detect single nucleotide polymorphisms (SNPs) for prenatal diagnosis of fetal abnormalities. CMA uses chorionic villus sampling (CVS) and amniocentesis samples to detect chromosomal imbalances that are not detected by karyotyping.

Studies have shown that approximately one in 17 women who have a pregnancy with fetal ultrasound abnormalities and a normal fetal karyotype will have a clinically significant chromosomal abnormality detected by CMA. The American College of Obstetrics and Gynecology (ACOG) recommends prenatal microarray analysis when major structural fetal abnormalities are identified by ultrasound. In addition, CMA is recommended for confirmation of positive results from noninvasive prenatal testing (NIPT) in order to preclude false positive results that can accompany NIPT.

CombiMatrix performs genetic testing utilizing a variety of advanced cytogenomic techniques, including chromosomal microarray, standardized and customized fluorescence in situ hybridization (FISH), and high-resolution karyotyping. The company specializes in prenatal diagnostics, miscarriage analysis for recurrent pregnancy loss, pediatric genetics and preimplantation genetic screening, and DNA-based testing for the detection of genetic abnormalities beyond what can be identified through traditional methodologies.

“With this approval, we now offer a more complete portfolio of prenatal testing services to physicians in the New York market,” says Mark McDonough, president and CEO of CombiMatrix. “The prenatal diagnostic test we offer is important both as a first-tier test and as a tool physicians utilize to confirm the increasing number of positive noninvasive prenatal screening results. We are excited about the opportunity to provide our high-quality testing services to our maternal-fetal medicine and OB/GYN customers in the third most populated state in the country.

“We see very significant growth opportunities for our prenatal diagnostics testing in the New York market,” McDonough adds. “Over the past two years, we have been successful at driving the adoption in this market for recurrent pregnancy loss with our CMA test on products of conception, despite not having any locally based New York sales representation. Our entry into the New York market with our prenatal diagnostic testing will allow us to optimize our current sales force, and we recently hired two additional sales representatives to capitalize on this opportunity. We also plan to leverage the New York-based representatives of our partner, Sequenom, San Diego, for prenatal diagnostic services.”

For additional information, visit CombiMatrix Corp.