To confirm the suspected diagnosis, and to rule out other possibilities, imaging tests are ordered.
The definitive diagnosis of an MPS is made using a biochemical test that measures the specific enzyme (known to be reduced or absent) in the individual's tissues or bodily fluids. Genetic testing may also be used to confirm a suspected diagnosis
Blood tests, urine tests, and tissue tests can be used to confirm a diagnosis of lipidoses.
A blood test for Bartonella henselae may be ordered to confirm the doctor's diagnosis.
It is a biopsy.
It is a biopsy.
Gaucher disease may be suspected based on symptoms and is confirmed with a blood test for levels of the enzyme. Samples of tissue from an affected area may also be used to confirm a diagnosis of the disease.
Biopsy
A diagnosis may be listed as a known diagnosis, one that has been confirmed, or a possible diagnosis, one that is suspected or part of a differential list that tests will be done to either confirm or eliminate. This second type is called R/O (rule out), for example, a patient in the ER with chest pain may have the diagnosis R/O myocardial infarction (heart attack) until the tests have been completed to determine if the person did or did not have a heart attack.
The AFP test cannot be used by itself to confirm a diagnosis of liver cancer, because cirrhosis or chronic hepatitis can also produce high alpha-fetoprotein levels.
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Diagnosis involves obtaining a sample of breast milk from the infected breast.