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How is chronic acid sphingomyelinase deficiency (ASMD) diagnosed?

To check for chronic acid sphingomyelinase deficiency (ASMD), a doctor will do some tests. A blood test will check how much acid sphingomyelinase people have. If the level of acid sphingomyelinase is too low, it’s a sign that they might have chronic ASMD. The doctor will do another blood test to look at the genes. The doctor or nurse will do some tests to check on the liver and spleen. He or she might take scans of the lungs and bones.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.