The Clinical and Molecular Cytogenetics Laboratory of South Texas Reference Laboratories (STRL) has become the first laboratory in the region to be certified by the U.S. Food and Drug Administration to provide Affymetrix CytoScan Dx Assay microarray testing. CytoScan Dx Assay testing is used to diagnose congenital anomalies, developmental delays, autism, and other autism spectrum disorders in newborns.
The laboratory, which is part of the Department of Pathology at UTHSC and UT Medicine San Antonio, the clinical practice of the School of Medicine, announced in a press release that the certification may improve the lives of numerous parents and babies.
The FDA has approved the use of microarray testing at the lab to diagnose genetic conditions, which is a milestone in pediatric health care, since parents usually need to wait about three months for physicians to diagnose their child’s disease and severity before starting treatment. Not only is this waiting period nerve-wracking for parents, but it may also be precious time that is wasted before initiating therapies.
This gap may now be reduced with CytoScan Dx Assay testing, which is the first microarray testing to receive approval from the FDA. In addition, Cytogenetics Laboratory manager Veronica Ortega, BA, CG (ASCP)CM is now the first professional in Texas, Oklahoma, Louisiana and Mississippi to be certified to conduct the testing, and one of only five people in the entire country to hold this certification.
Cytogenetics Laboratory director and professor of pathology, pediatrics and clinical laboratory sciences Gopalrao Velagaleti, Ph.D., FACMG, explained that, “microarray testing is the first line of testing for children with these conditions, and this testing is the standard of care according to the American College of Medical Genetics and American Academy of Pediatrics, the governing bodies of genetic and pediatric professionals.”
“Pediatricians use microarray testing widely already, but they may not be aware that there is an FDA-approved assay and that only we here at the UT Health Science Center have certified professionals to offer this testing in Texas and these other states,” added Dr. Velagaleti, as he explained that FDA-approved genetic testing is preferable to tests that are not approved. In addition, Velagaleti underlined the importance of early diagnosis, since several studies have already demonstrated that early interventions hold improved outcomes in children who suffer from these diseases.
Steven Seidner, M.D., professor of pediatrics and the medical director of the Neonatal Intensive Care Unit at University Hospital, also believes that the achievement will bring “a tremendous benefit to some of these families to know the underlying cause of their child’s condition, and what the typical outcome is for other babies with similar diagnoses. Occasionally this knowledge will also change our management of the baby, including the timing of needed surgeries.”
Dr. Seidner stressed that the test is able to determine the probability of another family member being a carrier of the same disease, since physicians will be able to tell if the infant has a new mutation with low probability of recurrence, or if there is a strong pattern of inheritance in the family. “We can often learn whether this is something of major concern to parents in future pregnancies,” Dr. Seidner said.
Importantly, after the FDA approval, the CytoScan Dx Assay is now eligible for reimbursement by the Centers for Medicare & Medicaid Services (CMS).