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What tests should be done to detect congenital metabolic disorders early?
Inborn errors of metabolism are one of the abnormalities that can occur in some newborns. This disease appears before the child is born and is characterized by ineffective functioning of metabolic reactions of groups of substances in the body. So what should be done when the child is tested for congenital errors of metabolism?
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Newborn screening heel blood test
Screening tests are simple, easy-to-perform methods that do not affect health to identify individuals at high risk of developing a certain disease.
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When and where should the 17-OHP test detect congenital adrenal hyperplasia?
The 17-OHP test helps doctors detect congenital adrenal hyperplasia, thereby providing timely treatment to avoid affecting the patient's life and quality of life.
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Sample collection, the meaning of 17-OHP . test results
17-OHP measurement is the first choice test for diagnosing congenital adrenal hyperplasia. The DIAsource ELISA assay is performed using venous blood as a specimen.
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Cardiology Pediatrics Orthopedics