SAN ANTONIO (Jan. 16, 2015) — Having a baby is a joyous event and can be nerve-wracking, even when the baby is the picture of health. Imagine being the parent of an infant who has a congenital anomaly, a developmental delay, autism or an autism spectrum disorder. Three months is the average wait time faced by parents in these situations as they seek to learn the nature of their child’s issue, the severity of it and the help the baby needs. The clock is ticking, precious time is lost and anxious moments are many.
The Clinical and Molecular Cytogenetics Laboratory of South Texas Reference Laboratories (STRL) in the Department of Pathology, and UT Medicine San Antonio, clinical practice of the School of Medicine at The University of Texas Health Science Center, now offer parents the option of rapid-turnaround, U.S. Food and Drug Administration (FDA)-approved microarray testing to diagnose these genetic conditions. The Clinical and Molecular Cytogenetics Laboratory recently became certified to offer Affymetrix CytoScan® Dx Assay microarray testing.
Veronica Ortega, BA, CG (ASCP)CM, manager of the Cytogenetics Laboratory, is the first professional in Texas, Oklahoma, Louisiana and Mississippi to be certified in CytoScan® Dx Assay testing, and in fact she is only the fifth professional in the entire United States to achieve this certification. In addition, the CytoScan® Dx Assay is the first microarray testing to gain FDA approval.
“The sooner you identify the underlying cause of these children’s medical conditions, the better the outcomes for the children in the long run,” Ortega said. “We can confirm the common abnormalities within 24 hours, which is a relief for families because conditions are diagnosed sooner so that the parents can pursue better care options for their children. Rapid diagnosis is cost-effective for hospitals and medical centers since parents and babies can be sent home from the neonatal intensive care unit sooner.”
Ortega said the lab team’s new motto, “answers today for a better tomorrow,” sums up their initiative for implementing this testing.
“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,” said Gopalrao Velagaleti, Ph.D., FACMG, professor of pathology, pediatrics and clinical laboratory sciences and director of the Cytogenetics Laboratory.
“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,” Dr. Velagaleti said.
He said parents and health care providers generally prefer genetic testing that is FDA-approved over testing that isn’t. He emphasized the importance of early diagnosis, as several studies have shown that the early interventions in children with these conditions always show much better outcomes than delayed diagnosis.
Also, because CytoScan® Dx Assay is FDA approved, reimbursement by the Centers for Medicare & Medicaid Services (CMS) could improve or CMS may be more inclined to cover the cost of the test.
Steven Seidner, M.D., professor of pediatrics and the medical director of the Neonatal Intensive Care Unit at University Hospital, said: “It is 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.”
Testing also tells families whether the child has a new mutation that likely will not recur, or whether 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.
The Cytogenetics Laboratory installed equipment at a cost of $300,000 to offer the testing and obtain the certification. “We wish to thank the dean of the School of Medicine, Francisco González-Scarano, M.D., and Robert Reddick, M.D., who recently retired as the chair of the Department of Pathology, for their support of this initiative,” Dr. Velagaleti said.
For information about the services, visit the Clinical and Molecular Cytogenetics Laboratory website.
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