![]() The blood spots need to be obtained been 24-48 hours old. Shortly after birth an infant has several drops of blood put onto a blood spot card and this is used for newborn screening. Although, as of 2015 all states do screen for maple syrup urine disease. The number and type of disease does vary by state. Shortly after birth all newborns are screened for certain disorders that if found can be treated early to prevent significant health problems such as brain damage or organ damage. In the United States there is a nationwide program called Newborn Screening. To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website ( and genetic counselors can be found on the National Society of Genetic Counselors website: There is newborn testing for maple syrup urine disease. Genetic testing may be considered to help confirm a diagnosis, or to assist family members in identifying unaffected carriers. A urine test for BCKAD excretion is done on persons older than 72 hours. The lab tests are on blood and typically includes quantitative plasma amino acid analysis, tandem mass spectrometry amino acid profiling, and branched chain alpha-hydroxyacids and alpha-ketoacids (BCKAD) enzymes. A geneticist or a physician that specializes in metabolic diseases may be the physician who is evaluating the patient as they often work closely with neonatologists. ![]() ![]() Since maple syrup urine disease usually presents in the neonatal period, a neonatologist would likely be the one ordering the biochemical tests. If maple syrup urine disease is suspected, a variety of lab tests will be ordered. ![]()
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