The specific test results used to diagnose a metabolic disorder will depend on the type of disorder suspected. Generally, a provider will perform a physical exam, take a medical history, and order laboratory tests to assess the functioning of various metabolic pathways and organs.    Common tests used to diagnose metabolic disorders include:  Blood tests: Blood tests are used to measure levels of specific chemicals and enzymes in the blood. Elevated or reduced levels of certain enzymes can indicate a metabolic disorder.  Urine tests: Urine tests can measure levels of specific chemicals and byproducts of metabolism. Abnormal levels of these substances can indicate a metabolic disorder.  Genetic testing: Genetic testing can identify specific genetic mutations that cause metabolic disorders.  Imaging tests: Imaging tests, such as X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI) can help detect abnormalities in organs and tissues that may indicate a metabolic disorder.  Biopsy: A biopsy involves taking a small sample of tissue from an affected organ, which can be examined under a microscope to identify any metabolic abnormalities.    Healthcare Providers may use other diagnostic tools and advanced testing to assess the impact of a metabolic disorder on the heart and other organs.