BCKDHA and maple syrup urine disease: In the abnormal newborn screening (NBS) results in favor of MSUD, the preferred molecular genetic test is using a multigene panel that contains BCKDHA, BCKDHB, and DBT. In the symptomatic patients with clinical findings suggestive of MSUD, If the biochemical result is highly suggestive of MSUD, the molecular genetic testing approach is the same as the situation mentioned item.