Barth syndrome

As of 2019, Barth syndrome is not on the core condition Recommended Uniform Screen Panel (RUSP) list in the U.S. However, it is on the secondary conditions list. The RUSP is created by the U.S. Health Resources and Services Administration, and states use this list to guide what conditions they screen for on newborn screening. Being a secondary condition means that Barth syndrome can be picked up by the newborn screening test because it is in the differential diagnosis of a core condition. For instance, the newborn screening test may screen positive for a core condition. However, when further testing is done for the core condition, the baby would test negative. The abnormal original screen may alert physicians to order further testing that includes testing for Barth syndrome.

Getting tested for Barth syndrome can happen in different ways. It may include laboratory testing in combination with a physical exam with a doctor looking for signs/symptoms of the condition. Laboratory tests can show high levels of 3-methylglutaconic acid (3-MGA) in urine or blood, as well as increased monolysocardiolipins (MLCL) and decreased cardiolipins (L4-CL). Genetic testing (usually from a blood sample) for the gene that causes Barth syndrome, known as tafazzin (TAZ), is also possible. Genetic laboratories can study the entire tafazzin gene DNA sequence to look for mutations that may cause Barth syndrome. To discuss arranging genetic testing for Barth syndrome, speak to your doctor of contact a local genetic counselor. In the U.S., you can find a genetic counselor through the "Find a Genetic Counselor" website at http://www.nsgc.org/page/find-a-genetic-counselor (available through the National Society of Genetic Counselors).

Once a boy or man is found to have Barth syndrome, others in his family could also have the condition or be carriers. If a boy or man is diagnosed with Barth syndrome, his mother may be a carrier. She should be offered genetic testing to see if she is a carrier. If she is a carrier, others in the family (such as her other children (if she has them), her sisters, her brothers, her parents) should be offered the option of genetic testing. To discuss arranging genetic testing for Barth syndrome, speak to your doctor of contact a local genetic counselor. In the U.S., you can find a genetic counselor through the "Find a Genetic Counselor" website at http://www.nsgc.org/page/find-a-genetic-counselor (available through the National Society of Genetic Counselors).