To facilitate a practical guide for biochemical and genetic diagnosis, we assessed which tests are necessary to diagnose each of the conditions. Accordingly we grouped the diseases into diseases diagnosed via ‘metabolic screening tests’ versus those diagnosed via a ‘single test per single disease’ approach.
As Screening Tests we defined those tests in blood and urine, which are readily available in biochemical laboratories in most developed countries, and with a yield of at least 2 IEM per test. Overall, these screening tests reliably provide clues for diagnosis for 65% (53/81) of all treatable IDs.
For the remaining 28 treatable conditions (35%) a specific ‘one test per one disease’ approach is required. These diseases are listed accordingly under Specific Tests.
For most diseases further confirmatory (biochemical / genetic) testing is needed.
As Screening Tests we defined those tests in blood and urine, which are readily available in biochemical laboratories in most developed countries, and with a yield of at least 2 IEM per test. Overall, these screening tests reliably provide clues for diagnosis for 65% (53/81) of all treatable IDs.
For the remaining 28 treatable conditions (35%) a specific ‘one test per one disease’ approach is required. These diseases are listed accordingly under Specific Tests.
For most diseases further confirmatory (biochemical / genetic) testing is needed.
