An ASMD diagnosis is the first step to appropriately managing symptoms
Getting tested for ASMD is simple
ASMD is diagnosed with one blood test
The recommended method for diagnosing ASMD is a blood test to measure the amount of ASM enzyme activity. A diagnosis of ASMD can be confirmed if the test shows decreased ASM enzyme activity.
Genetic testing may also be performed as additional confirmation to the enzyme blood test. If a family member has been diagnosed with ASMD, relatives should consider talking with their doctor about family screening.