State adds three new tests for disorders in newborns

By Julie Fann
star staff

   The state Department of Health just added three new blood tests for genetic disorders in newborns that specialists in the state's Nashville laboratory perform when they receive blood samples from infants born in Tennessee.
   The department recently bought a Tandem Mass Spectrometer, special equipment that tests for the disorders, as well as other diseases that can be added later if necessary.
   "Infants with genetic disorders appear completely normal at birth, but can develop serious problems after the first weeks or months of life that lead to mental retardation, severe illness or even death. If the disorders are diagnosed early, medical treatments or special diets can help to prevent those problems from occurring," said Dr. Wendy Long, deputy state health officer. "Through our previous testing efforts, we have been able to identify about 150 babies a year who are in need of treatment. Now we will be able to detect additional treatable disorders."
   Blood samples from all newborns are sent to the state laboratory in Nashville for testing. If any of the tests are abnormal, the Department of Health informs the baby's doctor to initiate retesting, confirmation and treatment from a specialist if necessary.
   The department already tests about 75,000 babies a year for six possible genetic disorders.
   New tests will detect a disorder resulting in mental retardation when the body cannot process a chemical called homocystine, as well as a deficiency caused from lack of an enzyme that breaks down fat stored in the body, resulting in seizures and possible death. The test will also detect a disease that occurs when a baby's body cannot properly break down amino acids in food.
   The Tandem Mass Spectrometer detects molecules by measuring their weight (mass) electronically and displaying the results in the form of a graph. The equipment reduces the amount of time for testing from 30 minutes to two minutes, according to the Department of Health.