The treating doctor has to suspect the diagnosis in order to test for it. This is where the real problem lies. LSDs are a relatively rare group of conditions and the doctors don't always consider the diagnosis.
Often, they will explore other more common conditions, before narrowing the diagnosis to a LSD.
The diagnosis test for a LSD is to check the enzyme levels in the blood for that enzyme suspected to be deficient. Doctors may also sometimes do a muscle biopsy to take a urine sample. The cost per blood test for enzyme levels is R250 or R300. Results take anywhere from 10 to 15 days to become available. In some LSDs genetic tests are available to make the diagnosis.
Its is advised that 2 different types of testing be done to confirm a suspected diagnosis, for example, a blood test and a muscle biopsy.
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