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LABORATORY OF GENETICS AND GENOMICSMailing Address:For local courier service and/or inquiries, please contact 5136364474 Fax: 51363643733333 Burned Avenue, Room R1042www.cincinnatichildrens.org/moleculargenetics
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01
Consult with a genetic counselor or healthcare provider to determine if a lysosomal storage disease test is necessary.
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Schedule an appointment with a healthcare provider to discuss the test and obtain a prescription.
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Visit a laboratory or healthcare facility to provide a blood or urine sample for testing.
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Wait for the results of the test to be analyzed and discussed with a healthcare provider.
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Follow any recommendations or treatment plans provided by the healthcare provider based on the test results.

Who needs lysosomal storage disease test?

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Individuals who have a family history of lysosomal storage disease.
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People who are experiencing symptoms of lysosomal storage disease, such as organ enlargement, neurological problems, or bone abnormalities.
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Those who are at increased risk of lysosomal storage disease due to ethnicity or other factors.
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Lysosomal storage disease test is a diagnostic test used to detect the presence of lysosomal storage disorders in an individual by measuring specific enzyme activity levels or genetic mutations.
Patients suspected of having lysosomal storage disease are required to undergo lysosomal storage disease test.
Lysosomal storage disease tests can be filled out by medical professionals specialized in the diagnosis of such disorders.
The purpose of lysosomal storage disease test is to confirm the presence of lysosomal storage disorders in individuals for appropriate treatment and management.
The lysosomal storage disease test must include patient demographics, clinical symptoms, family history, and specific test results.
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